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[PMID]:28823207
[Au] Autor:Dávid A; Butz H; Halász Z; Török D; Nyiro G; Muzsnai Á; Csákváry V; Luczay A; Sallai Á; Hosszú É; Felszeghy E; Tar A; Szántó Z; Fekete GL; Kun I; Patócs A; Bertalan R
[Ad] Endereço:II. Belgyógyászati Klinika, Semmelweis Egyetem, Általános Orvostudományi Kar Budapest.
[Ti] Título:[The prevalence of SHOX gene deletion in children with idiopathic short stature. A multicentric study].
[Ti] Título:A SHOX géndeletio elofordulása idiopáthiás alacsonynövésben. Multicentrikus tanulmány..
[So] Source:Orv Hetil;158(34):1351-1356, 2017 Aug.
[Is] ISSN:0030-6002
[Cp] País de publicação:Hungary
[La] Idioma:hun
[Ab] Resumo:INTRODUCTION: The isolated haploinsufficiency of the SHOX gene is one of the most common cause of short stature determined by monogenic mutations. The heterozygous deviation of the gene can be detected in 2-15% of patients with idiopathic short stature (ISS), in 50-90% of patients with Leri-Weill dyschondrosteosis syndrome (LWS), and in almost 100% of patients with Turner syndrome. AIM: The aim of our study was to evaluate the frequency of SHOX gene haploinsufficiency in children with ISS, LWS and in patients having Turner syndrome phenotype (TF), but normal karyotype, and to identify the dysmorphic signs characteristic for SHOX gene deficiency. METHOD: A total of 144 patients were included in the study. Multiplex Ligation-dependent Probe Amplification (MLPA) method was used to identify the SHOX gene haploinsufficiency. The relationships between clinical data (axiological parameters, skeletal disorders, dysmorphic signs) and genotype were analyzed by statistical methods. RESULTS: 11 (7.6%) of the 144 patients showed SHOX gene deficiency with female dominance (8/11, 81% female). The SHOX positive patients had a significantly higher BMI (in 5/11 vs. 20/133 cases, p<0.02) and presented more frequent dysmorphic signs (9/11vs 62/133, p = 0.02). Madelung deformity of the upper limbs was also significantly more frequent among the SHOX positive patients (4/11, i.e. 36%, vs. 14/133, i.e. 10%, p = 0.0066). There were no statistically significant differences between the mean age, mean height and auxological measurements (sitting height/height, arm span/height) between the two groups of patients. CONCLUSIONS: The occurrence of SHOX gene haploinsufficiency observed in our population corresponds to the literature data. In SHOX positive patients, in addition to short stature, the dysmorphic signs have a positive predictive value for SHOX gene alterations. However, the SHOX deletion detected in a patient with idiopathic short stature without dysmorphic signs suggest that SHOX deletion analysis can be recommended in patients with ISS. Orv Hetil. 2017; 158(34): 1351-1356.
[Mh] Termos MeSH primário: Estatura/genética
Testes Genéticos/métodos
Transtornos do Crescimento/epidemiologia
Transtornos do Crescimento/genética
Proteínas de Homeodomínio/genética
[Mh] Termos MeSH secundário: Antropometria
Criança
Feminino
Transtornos do Crescimento/diagnóstico
Seres Humanos
Hungria
Masculino
Repetições de Microssatélites
Prevalência
Proteína de Homoeobox de Baixa Estatura
[Pt] Tipo de publicação:JOURNAL ARTICLE; MULTICENTER STUDY
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170822
[St] Status:MEDLINE
[do] DOI:10.1556/650.2017.30829


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[PMID]:28667181
[Au] Autor:von Spiczak S; Helbig KL; Shinde DN; Huether R; Pendziwiat M; Lourenço C; Nunes ME; Sarco DP; Kaplan RA; Dlugos DJ; Kirsch H; Slavotinek A; Cilio MR; Cervenka MC; Cohen JS; McClellan R; Fatemi A; Yuen A; Sagawa Y; Littlejohn R; McLean SD; Hernandez-Hernandez L; Maher B; Møller RS; Palmer E; Lawson JA; Campbell CA; Joshi CN; Kolbe DL; Hollingsworth G; Neubauer BA; Muhle H; Stephani U; Scheffer IE; Pena SDJ; Sisodiya SM; Helbig I; Epi4K Consortium; EuroEPINOMICS-RES NLES Working Group
[Ad] Endereço:Author affiliations are provided at the end of the article.
[Ti] Título: encephalopathy: A new disease of vesicle fission.
[So] Source:Neurology;89(4):385-394, 2017 Jul 25.
[Is] ISSN:1526-632X
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To evaluate the phenotypic spectrum caused by mutations in dynamin 1 ( ), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling. METHODS: We reviewed phenotypic data of 21 patients (7 previously published) with mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function. RESULTS: We identified 19 patients with de novo mutations in and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function. CONCLUSIONS: The phenotypic spectrum of -related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.
[Mh] Termos MeSH primário: Encefalopatias/genética
Encefalopatias/metabolismo
GTP Fosfo-Hidrolases/genética
GTP Fosfo-Hidrolases/metabolismo
Proteínas Associadas aos Microtúbulos/genética
Proteínas Associadas aos Microtúbulos/metabolismo
Proteínas Mitocondriais/genética
Proteínas Mitocondriais/metabolismo
Mutação
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Estudos de Coortes
Análise Mutacional de DNA
Feminino
Proteínas de Homeodomínio
Seres Humanos
Lactente
Masculino
Modelos Moleculares
Fenótipo
Proteína de Homoeobox de Baixa Estatura
Irmãos
Vesículas Sinápticas/metabolismo
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (Microtubule-Associated Proteins); 0 (Mitochondrial Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein); EC 3.6.1.- (GTP Phosphohydrolases); EC 3.6.5.5 (DNM1L protein, human)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170702
[St] Status:MEDLINE
[do] DOI:10.1212/WNL.0000000000004152


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[PMID]:28629824
[Au] Autor:Hirschfeldova K; Solc R
[Ad] Endereço:Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University and General University Hospital in Prague, Albertov 4, 128 00 Prague, Czech Republic. Electronic address: khirs@lf1.cuni.cz.
[Ti] Título:Comparison of SHOX and associated elements duplications distribution between patients (Leri-Weill dyschondrosteosis/idiopathic short stature) and population sample.
[So] Source:Gene;627:164-168, 2017 Sep 05.
[Is] ISSN:1879-0038
[Cp] País de publicação:Netherlands
[La] Idioma:eng
[Ab] Resumo:The effect of heterozygous duplications of SHOX and associated elements on Leri-Weill dyschondrosteosis (LWD) and idiopathic short stature (ISS) development is less distinct when compared to reciprocal deletions. The aim of our study was to compare frequency and distribution of duplications within SHOX and associated elements between population sample and LWD (ISS) patients. A preliminary analysis conducted on Czech population sample of 250 individuals compared to our previously reported sample of 352 ISS/LWD Czech patients indicated that rather than the difference in frequency of duplications it is the difference in their distribution. Particularly, there was an increased frequency of duplications residing to the CNE-9 enhancer in our LWD/ISS sample. To see whether the obtained data are consistent across published studies we made a literature survey to get published cases with SHOX or associated elements duplication and formed the merged LWD, the merged ISS, and the merged population samples. Relative frequency of particular region duplication in each of those merged samples were calculated. There was a significant difference in the relative frequency of CNE-9 enhancer duplications (11 vs. 3) and complete SHOX (exon1-6b) duplications (4 vs. 24) (p-value 0.0139 and p-value 0.000014, respectively) between the merged LWD sample and the merged population sample. We thus propose that partial SHOX duplications and small duplications encompassing CNE-9 enhancer could be highly penetrant alleles associated with ISS and LWD development.
[Mh] Termos MeSH primário: Elementos Facilitadores Genéticos
Duplicação Gênica
Transtornos do Crescimento/genética
Proteínas de Homeodomínio/genética
Osteocondrodisplasias/genética
[Mh] Termos MeSH secundário: Estudos de Casos e Controles
Feminino
Seres Humanos
Masculino
Penetrância
Polimorfismo Genético
Proteína de Homoeobox de Baixa Estatura
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170621
[St] Status:MEDLINE


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[PMID]:28586082
[Au] Autor:Björlin Avdic H; Giacobini M; Anderlid BM; Nordgren A; Frisén L
[Ad] Endereço:Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden Karolinska Institutet Department of Clinical Neuroscience - Stockholm, Sweden.
[Ti] Título:Otillräcklig kunskap om samband mellan könskromosom­­avvikelser och psykiatriska diagnoser - Viktigt att barn och unga utreds och får rätt omhändertagande..
[So] Source:Lakartidningen;114, 2017 Jun 02.
[Is] ISSN:1652-7518
[Cp] País de publicação:Sweden
[La] Idioma:swe
[Ab] Resumo:Sex chromosome abnormalities are among the most common genetic changes. The manifestations vary and may include growth abnormalities, specific appearance features, and other endocrinological and physical disorders, but also delayed psychomotor development, learning disabilities, and psychiatric conditions including ADHD and autism spectrum disorders. Increased knowledge about the relationship between sex chromosome abnormalities, development and psychiatric conditions would enable improved care of these patients.
[Mh] Termos MeSH primário: Transtornos do Neurodesenvolvimento/genética
Aberrações dos Cromossomos Sexuais
Transtornos dos Cromossomos Sexuais/complicações
[Mh] Termos MeSH secundário: Adolescente
Criança
Proteínas de Homeodomínio/genética
Seres Humanos
Transtornos dos Cromossomos Sexuais/epidemiologia
Proteína de Homoeobox de Baixa Estatura
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE


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[PMID]:28002818
[Au] Autor:Benabbad I; Rosilio M; Child CJ; Carel JC; Ross JL; Deal CL; Drop SL; Zimmermann AG; Jia N; Quigley CA; Blum WF
[Ad] Endereço:Endocrinology and Diabetes Unit, Eli Lilly, Neuilly-sur-Seine, France.
[Ti] Título:Safety Outcomes and Near-Adult Height Gain of Growth Hormone-Treated Children with SHOX Deficiency: Data from an Observational Study and a Clinical Trial.
[So] Source:Horm Res Paediatr;87(1):42-50, 2017.
[Is] ISSN:1663-2826
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:BACKGROUND/AIMS: To assess auxological and safety data for growth hormone (GH)-treated children with SHOX deficiency. METHODS: Data were examined for GH-treated SHOX-deficient children (n = 521) from the observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS). For patients with near-adult height information, GeNeSIS results (n = 90) were compared with a clinical trial (n = 28) of SHOX-deficient patients. Near-adult height was expressed as standard deviation score (SDS) for chronological age, potentially increasing the observed effect of treatment. RESULTS: Most SHOX-deficient patients in GeNeSIS had diagnoses of Leri-Weill syndrome (n = 292) or non-syndromic short stature (n = 228). For GeNeSIS patients with near-adult height data, mean age at GH treatment start was 11.0 years, treatment duration 4.4 years, and height SDS gain 0.83 (95% confidence interval 0.49-1.17). Respective ages, GH treatment durations and height SDS gains for GeNeSIS patients prepubertal at baseline (n = 42) were 9.2 years, 6.0 years and 1.19 (0.76-1.62), and for the clinical trial cohort they were 9.2 years, 6.0 years and 1.25 (0.92-1.58). No new GH-related safety concerns were identified. CONCLUSION: Patients with SHOX deficiency who had started GH treatment before puberty in routine clinical practice had a similar height gain to that of patients in the clinical trial on which approval for the indication was based, with no new safety concerns.
[Mh] Termos MeSH primário: Estatura
Desenvolvimento Infantil/efeitos dos fármacos
Transtornos do Crescimento
Proteínas de Homeodomínio/genética
Hormônio do Crescimento Humano/administração & dosagem
Osteocondrodisplasias
[Mh] Termos MeSH secundário: Estatura/efeitos dos fármacos
Estatura/genética
Criança
Feminino
Seguimentos
Transtornos do Crescimento/tratamento farmacológico
Transtornos do Crescimento/genética
Transtornos do Crescimento/fisiopatologia
Seres Humanos
Masculino
Osteocondrodisplasias/tratamento farmacológico
Osteocondrodisplasias/genética
Osteocondrodisplasias/fisiopatologia
Proteína de Homoeobox de Baixa Estatura
[Pt] Tipo de publicação:CLINICAL TRIAL; JOURNAL ARTICLE; MULTICENTER STUDY; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein); 12629-01-5 (Human Growth Hormone)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE
[do] DOI:10.1159/000452973


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[PMID]:27708272
[Au] Autor:Hirschfeldova K; Florianova M; Kebrdlova V; Urbanova M; Stekrova J
[Ad] Endereço:Institute of Biology and Medical Genetics, First Faculty of Medicine and General University Hospital, Charles University in Prague, Prague, Czech Republic.
[Ti] Título:Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness.
[So] Source:J Hum Genet;62(2):253-257, 2017 Feb.
[Is] ISSN:1435-232X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Heterozygous aberrations of SHOX gene have been reported to be responsible for Léri-Weill dyschondrosteosis (LWD) and small portion of idiopathic short stature. The study was established to assess effectiveness of using phenotype 'scoring form' in patients indicated for SHOX gene defect analysis. The submitted study is based on a retrospective group of 352 unrelated patients enrolled as a part of the routine diagnostic practice and analyzed for aberrations affecting the SHOX gene. All participants were scanned for deletion/duplication within the main pseudoautosomal region (PAR1) using the multiplex ligation-dependent probe amplification (MLPA) method. The phenotype 'scoring form' is used in our laboratory practice to preselect patients for subsequent mutation analysis of SHOX gene-coding sequences. The overall detection rate was 11.1% but there was a significant increase in frequency of SHOX gene defect positive with increasing achieved score (P<0.0001). The most frequent aberration was a causal deletion within PAR1. In three probands, MLPA analysis indicated a more complex rearrangement. Madelung deformity or co-occurrence of disproportionate short stature, short forearm and muscular hypertrophy had represented the most potent markers to determine the likelihood of SHOX gene defect detection. We conclude that appliance of phenotype 'scoring form' had saved excessive sample analysis and enabled effective routine diagnostic testing.
[Mh] Termos MeSH primário: Análise Mutacional de DNA/métodos
Duplicação Gênica/genética
Transtornos do Crescimento/diagnóstico
Transtornos do Crescimento/genética
Proteínas de Homeodomínio/genética
Osteocondrodisplasias/diagnóstico
Osteocondrodisplasias/genética
Deleção de Sequência/genética
[Mh] Termos MeSH secundário: Estatura/genética
Nanismo/genética
Testes Genéticos
Seres Humanos
Reação em Cadeia da Polimerase Multiplex
Técnicas de Amplificação de Ácido Nucleico
Fenótipo
Estudos Retrospectivos
Proteína de Homoeobox de Baixa Estatura
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161007
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2016.117


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[PMID]:27604558
[Au] Autor:Benito-Sanz S; Belinchon-Martínez A; Aza-Carmona M; de la Torre C; Huber C; González-Casado I; Ross JL; Thomas NS; Zinn AR; Cormier-Daire V; Heath KE
[Ad] Endereço:Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, Universidad Autónoma de Madrid, Madrid, Spain.
[Ti] Título:Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region.
[So] Source:J Hum Genet;62(2):229-234, 2017 Feb.
[Is] ISSN:1435-232X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Short stature homeobox gene (SHOX) is located in the pseudoautosomal region 1 of the sex chromosomes. It encodes a transcription factor implicated in the skeletal growth. Point mutations, deletions or duplications of SHOX or its transcriptional regulatory elements are associated with two skeletal dysplasias, Léri-Weill dyschondrosteosis (LWD) and Langer mesomelic dysplasia (LMD), as well as in a small proportion of idiopathic short stature (ISS) individuals. We have identified a total of 15 partial SHOX deletions and 13 partial SHOX duplications in LWD, LMD and ISS patients referred for routine SHOX diagnostics during a 10 year period (2004-2014). Subsequently, we characterized these alterations using MLPA (multiplex ligation-dependent probe amplification assay), fine-tiling array CGH (comparative genomic hybridation) and breakpoint PCR. Nearly half of the alterations have a distal or proximal breakpoint in intron 3. Evaluation of our data and that in the literature reveals that although partial deletions and duplications only account for a small fraction of SHOX alterations, intron 3 appears to be a breakpoint hotspot, with alterations arising by non-allelic homologous recombination, non-homologous end joining or other complex mechanisms.
[Mh] Termos MeSH primário: Duplicação Gênica/genética
Transtornos do Crescimento/genética
Proteínas de Homeodomínio/genética
Osteocondrodisplasias/genética
Deleção de Sequência/genética
[Mh] Termos MeSH secundário: Sequência de Bases
Hibridização Genômica Comparativa
Seres Humanos
Íntrons/genética
Reação em Cadeia da Polimerase Multiplex
Técnicas de Amplificação de Ácido Nucleico
Análise de Sequência de DNA
Proteína de Homoeobox de Baixa Estatura
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160909
[St] Status:MEDLINE
[do] DOI:10.1038/jhg.2016.113


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[PMID]:27997249
[Au] Autor:Campos-Acevedo LD; Ibarra-Ramirez M; de Jesús Lugo-Trampe J; de Jesús Zamudio-Osuna M; Torres-Muñoz I; Del Roble Velasco-Campos M; Rojas-Patlan L; Rodríguez-Sánchez IP; Martínez-de-Villarreal LE
[Ad] Endereço:Departamento de Genética, Facultad de Medicina y Hospital Universitario José E. González, Universidad Autónoma de Nuevo León (UANL) , Monterrey, México .
[Ti] Título:Dosage of Sex Chromosomal Genes in Blood Deposited on Filter Paper for Neonatal Screening of Sex Chromosome Aneuploidy.
[So] Source:Genet Test Mol Biomarkers;20(12):786-790, 2016 Dec.
[Is] ISSN:1945-0257
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:AIMS: In this study, we examined the doses of the stature homeobox (SHOX), vesicle-associated membrane protein 7 (VAMP7), and SRY genes to establish a protocol for using peripheral blood samples deposited on filter paper for the screening of sex chromosome aneuploidy in neonates. We also measured correlations with karyotypes to assess this method as a neonatal screening strategy. MATERIALS AND METHODS: This was an observational, descriptive, comparative blind study. Thirty-two healthy young adults (17 women, 15 men; age, ≥18 years), four patients with known sex chromosome aneuploidy (positive control group), and 1000 healthy newborns were included. Gene dosages were determined using quantitative real-time polymerase chain reaction (RT-PCR). Values with standard deviations (SDs) of three or more were considered abnormal. RESULTS: Men and women differed in the gene dosage of the SRY gene. Cases with Turner syndrome showed values below 3 SDs for SHOX and VAMP7 genes, and cases with Klinefelter syndrome showed values above 3 SDs for SHOX and VAMP7 genes. Two suspected cases of sex chromosome aneuploidy were diagnosed using our neonatal screening strategy; these cases were confirmed as Turner syndrome and 47,XYY syndrome by karyotyping. CONCLUSIONS: Our data establish a basis for the determination of chromosomal sex and neonatal screening of sex chromosome aneuploidy using RT-PCR.
[Mh] Termos MeSH primário: Aneuploidia
Triagem Neonatal/métodos
Diagnóstico Pré-Natal/métodos
Aberrações dos Cromossomos Sexuais
Cromossomos Sexuais
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Feminino
Dosagem de Genes
Proteínas de Homeodomínio/sangue
Proteínas de Homeodomínio/genética
Seres Humanos
Recém-Nascido
Cariotipagem/métodos
Síndrome de Klinefelter/diagnóstico
Síndrome de Klinefelter/genética
Masculino
Gravidez
Proteínas R-SNARE/sangue
Proteínas R-SNARE/genética
Transtornos dos Cromossomos Sexuais
Proteína da Região Y Determinante do Sexo/sangue
Proteína da Região Y Determinante do Sexo/genética
Proteína de Homoeobox de Baixa Estatura
Síndrome de Turner/diagnóstico
Síndrome de Turner/genética
Cariótipo XYY
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (R-SNARE Proteins); 0 (SHOX protein, human); 0 (SRY protein, human); 0 (Sex-Determining Region Y Protein); 0 (Short Stature Homeobox Protein); 0 (VAMP7 protein, human)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161221
[St] Status:MEDLINE
[do] DOI:10.1089/gtmb.2016.0101


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[PMID]:27994182
[Au] Autor:Alexandrou A; Papaevripidou I; Tsangaras K; Alexandrou I; Tryfonidis M; Christophidou-Anastasiadou V; Zamba-Papanicolaou E; Koumbaris G; Neocleous V; Phylactou LA; Skordis N; Tanteles GA; Sismani C
[Ad] Endereço:Cytogenetics and Genomics Department, The Cyprus Institute of Neurology and Genetics, Nicosia 1683, Cyprus. csismani@cing.ac.cy.
[Ti] Título:Identification of a novel 15.5 kb SHOX deletion associated with marked intrafamilial phenotypic variability and analysis of its molecular origin.
[So] Source:J Genet;95(4):839-845, 2016 Dec.
[Is] ISSN:0973-7731
[Cp] País de publicação:India
[La] Idioma:eng
[Ab] Resumo:Haploinsufficiency of the short stature homeobox contaning SHOX gene has been shown to result in a spectrum of phenotypes ranging from Leri-Weill dyschondrosteosis (LWD) at the more severe end to SHOX-related short stature at the milder end of the spectrum. Most alterations are whole gene deletions, point mutations within the coding region, or microdeletions in its flanking sequences. Here, we present the clinical and molecular data as well as the potential molecular mechanism underlying a novel microdeletion, causing a variable SHOX-related haploinsufficiency disorder in a three-generation family. The phenotype resembles that of LWD in females, in males, however, the phenotypic expression is milder. The 15523-bp SHOX intragenic deletion, encompassing exons 3-6, was initially detected by array-CGH, followed by MLPA analysis. Sequencing of the breakpoints indicated an Alu recombination-mediated deletion (ARMD) as the potential causative mechanism.
[Mh] Termos MeSH primário: Estudos de Associação Genética
Proteínas de Homeodomínio/genética
Fenótipo
Deleção de Sequência
[Mh] Termos MeSH secundário: Adulto
Elementos Alu
Sequência de Bases
Bandeamento Cromossômico
Pontos de Quebra do Cromossomo
Hibridização Genômica Comparativa
Feminino
Genes Ligados ao Cromossomo X
Transtornos do Crescimento/diagnóstico
Transtornos do Crescimento/genética
Seres Humanos
Masculino
Osteocondrodisplasias/diagnóstico
Osteocondrodisplasias/genética
Linhagem
Análise de Sequência de DNA
Proteína de Homoeobox de Baixa Estatura
Translocação Genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein)
[Em] Mês de entrada:1704
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161221
[St] Status:MEDLINE


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[PMID]:27861128
[Au] Autor:Montalbano A; Juergensen L; Roeth R; Weiss B; Fukami M; Fricke-Otto S; Binder G; Ogata T; Decker E; Nuernberg G; Hassel D; Rappold GA
[Ad] Endereço:Department of Human Molecular Genetics, Heidelberg University, Heidelberg, Germany.
[Ti] Título:Retinoic acid catabolizing enzyme CYP26C1 is a genetic modifier in SHOX deficiency.
[So] Source:EMBO Mol Med;8(12):1455-1469, 2016 12.
[Is] ISSN:1757-4684
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mutations in the homeobox gene SHOX cause SHOX deficiency, a condition with clinical manifestations ranging from short stature without dysmorphic signs to severe mesomelic skeletal dysplasia. In rare cases, individuals with SHOX deficiency are asymptomatic. To elucidate the factors that modify disease severity/penetrance, we studied a three-generation family with SHOX deficiency. The variant p.Phe508Cys of the retinoic acid catabolizing enzyme CYP26C1 co-segregated with the SHOX variant p.Val161Ala in the affected individuals, while the SHOX mutant alone was present in asymptomatic individuals. Two further cases with SHOX deficiency and damaging CYP26C1 variants were identified in a cohort of 68 individuals with LWD The identified CYP26C1 variants affected its catabolic activity, leading to an increased level of retinoic acid. High levels of retinoic acid significantly decrease SHOX expression in human primary chondrocytes and zebrafish embryos. Individual morpholino knockdown of either gene shortens the pectoral fins, whereas depletion of both genes leads to a more severe phenotype. Together, our findings describe CYP26C1 as the first genetic modifier for SHOX deficiency.
[Mh] Termos MeSH primário: Família 26 do Citocromo P450/genética
Predisposição Genética para Doença
Transtornos do Crescimento/genética
Transtornos do Crescimento/patologia
Proteínas de Homeodomínio/genética
Osteocondrodisplasias/genética
Osteocondrodisplasias/patologia
[Mh] Termos MeSH secundário: Adolescente
Adulto
Idoso
Animais
Criança
Família 26 do Citocromo P450/metabolismo
Feminino
Perfilação da Expressão Gênica
Variação Genética
Seres Humanos
Masculino
Meia-Idade
Ácido Retinoico 4 Hidroxilase/genética
Ácido Retinoico 4 Hidroxilase/metabolismo
Análise de Sequência de DNA
Índice de Gravidade de Doença
Proteína de Homoeobox de Baixa Estatura
Tretinoína/metabolismo
Adulto Jovem
Peixe-Zebra/anatomia & histologia
Proteínas de Peixe-Zebra/genética
Proteínas de Peixe-Zebra/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Homeodomain Proteins); 0 (SHOX protein, human); 0 (Short Stature Homeobox Protein); 0 (Zebrafish Proteins); 5688UTC01R (Tretinoin); EC 1.14.14.1 (CYP26C1 protein, human); EC 1.14.14.1 (Cyp26c1 protein, zebrafish); EC 1.14.14.1 (Cytochrome P450 Family 26); EC 1.14.14.1 (Retinoic Acid 4-Hydroxylase)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161119
[St] Status:MEDLINE
[do] DOI:10.15252/emmm.201606623



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