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[PMID]:28224805
[Au] Autor:Lisková P; Dudáková L; Diblík P
[Ti] Título:[Blepharophimosis-ptosis-epicanthus inversus syndrome].
[Ti] Título:Syndrom blefarofimóza-ptóza-inverzní epikantus..
[So] Source:Cesk Slov Oftalmol;72(5):187-190, 2016.
[Is] ISSN:1211-9059
[Cp] País de publicação:Czech Republic
[La] Idioma:cze
[Ab] Resumo:PURPOSE: To report the ocular phenotype of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). METHODS: Ophthalmological examination of a 36 year-old proband and detailed family history evaluation, including assessment of available facial photographs of affected relatives, was performed. RESULTS: There were four affected males and one female in three generations. The proband underwent two surgical eyelid procedures in childhood. Upon our examination, he had symmetrical ptosis with shorter eye lids, and incomplete medial canthal closure. The skin in the inner canthi was scarred, and the medial lower lids slightly everted, leading to malapposition of lacrimal punctae. There was no epicanthus inversus, however it was impossible to determine the status prior to the eyelid surgeries. The best corrected visual acuity was 0.66 and 0.33, in the right and left eye, respectively. The rest of the ocular examination was normal. There was no strabismus. Based on inspection of photographs taken prior to eyelid surgeries, the typical signs of BPES were also present in a son and a nephew of the proband. Photographs of the affected brother were not available, but family history indicated that he had BPES and underwent in his childhood two eye lid surgeries. Atypical ocular phenotype of the probands mother has been published previously. CONCLUSIONS: Ophthalmologists need to be aware about the phenotype of BPES, with the potential for visual impairment, and the need for personalized management in the affected families.Key words: blepharophimosis-ptosis-epicanthus inversus, phenotype, FOXL2.
[Mh] Termos MeSH primário: Blefarofimose/genética
Anormalidades da Pele/genética
Anormalidades Urogenitais/genética
[Mh] Termos MeSH secundário: Adulto
Blefarofimose/diagnóstico
Blefarofimose/cirurgia
Blefaroplastia
Pálpebras/cirurgia
Feminino
Seres Humanos
Masculino
Linhagem
Fenótipo
Anormalidades da Pele/diagnóstico
Anormalidades da Pele/cirurgia
Síndrome
Anormalidades Urogenitais/diagnóstico
Anormalidades Urogenitais/cirurgia
Transtornos da Visão/diagnóstico
Transtornos da Visão/genética
Transtornos da Visão/cirurgia
Acuidade Visual/fisiologia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171128
[Lr] Data última revisão:
171128
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170223
[St] Status:MEDLINE


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[PMID]:28604951
[Au] Autor:Yang X; Li W; Du J; Yuan S; He W; Zhang Q; Zhong C; Lu G; Tan Y
[Ad] Endereço:Institute of Reproductive and Stem Cell Engineering, Central South University, Changsha, Hunan 410078, China. tanyueqiu@csu.edu.cn.
[Ti] Título:[Analysis of FOXL2 gene mutations in 5 families affected with blepharophimosis, ptosis and epicanthus inversus syndrome].
[So] Source:Zhonghua Yi Xue Yi Chuan Xue Za Zhi;34(3):342-346, 2017 Jun 10.
[Is] ISSN:1003-9406
[Cp] País de publicação:China
[La] Idioma:chi
[Ab] Resumo:OBJECTIVE: To screen for FOXL2 gene mutations in 6 patients with blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES), and explore their genotype-phenotype correlation. METHODS: Peripheral venous blood samples were collected from the patients for the extraction of genomic DNA. PCR and Sanger sequencing were employed to analyze the coding region and flanking sequences of the FOXL2 gene. Pathogenicity of the identified mutations was verified through literature review and bioinformatic analysis. RESULTS: A heterozygous c.672_701dup30 mutation was found in the probands from the two familial cases, while three heterozygous mutations (two were novel), namely c.462_468del (p.Pro156Argfs*113), c.251T to A (p.Ile84Asn) and c.988_989insG (p.Ala330Glyfs*204) were detected in the three sporadic cases. Literature review and bioinformatic analysis indicated that all these mutations are pathogenic. CONCLUSION: Identification of causative mutations in the BPES patients has provided a basis for genetic counseling and reproductive guidance. The novel mutations have enriched the mutation spectrum of the FOXL2 gene.
[Mh] Termos MeSH primário: Blefarofimose/genética
Fatores de Transcrição Forkhead/genética
Anormalidades da Pele/genética
Anormalidades Urogenitais/genética
[Mh] Termos MeSH secundário: Adulto
Grupo com Ancestrais do Continente Asiático/genética
Sequência de Bases
Blefarofimose/diagnóstico
China
Feminino
Proteína Forkhead Box L2
Estudos de Associação Genética
Seres Humanos
Masculino
Dados de Sequência Molecular
Linhagem
Anormalidades da Pele/diagnóstico
Anormalidades Urogenitais/diagnóstico
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (FOXL2 protein, human); 0 (Forkhead Box Protein L2); 0 (Forkhead Transcription Factors)
[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:170613
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.1003-9406.2017.03.006


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[PMID]:28380105
[Au] Autor:Akaishi P; Galindo-Ferreiro A; Elkhamary SM; Al-Sadah Z; Galvez-Ruiz A; Cruz AA
[Ad] Endereço:Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, Faculdade de Medina de Ribeirão Preto, Universidade de São Paulo, Ribeirão Preto, SP, Brazil.
[Ti] Título:Accidental lacrimal gland removal during resection of the levator palpebrae superioris muscle.
[So] Source:Arq Bras Oftalmol;80(1):57-58, 2017 Jan-Feb.
[Is] ISSN:1678-2925
[Cp] País de publicação:Brazil
[La] Idioma:eng
[Ab] Resumo:Accidental removal of the lacrimal gland is a rare complication of ptosis surgery. We report two children who underwent large unilateral levator palpebrae superioris resections (LPSr). After surgery, both patients developed dry eye. Post-operatively, the parents of both patients noticed no tears in the affected eye when their child cried. Computed tomography proved the absence of the lacrimal gland in the operated eye in both patients. Oculoplastic surgeons should pay close attention to the anatomy of the levator muscle and its proximity to surrounding tissues in order to avoid lesions on important orbital structures, including the lacrimal gland, and to avoid the development of long-term dry eye.
[Mh] Termos MeSH primário: Blefarofimose/cirurgia
Síndromes do Olho Seco/etiologia
Aparelho Lacrimal/lesões
Erros Médicos/efeitos adversos
Músculos Oculomotores/cirurgia
Complicações Pós-Operatórias/etiologia
[Mh] Termos MeSH secundário: Criança
Feminino
Seres Humanos
Lactente
Aparelho Lacrimal/diagnóstico por imagem
Masculino
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:CASE REPORTS
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171005
[Lr] Data última revisão:
171005
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170406
[St] Status:MEDLINE


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[PMID]:28369444
[Au] Autor:Donnio LM; Bidon B; Hashimoto S; May M; Epanchintsev A; Ryan C; Allen W; Hackett A; Gecz J; Skinner C; Stevenson RE; de Brouwer APM; Coutton C; Francannet C; Jouk PS; Schwartz CE; Egly JM
[Ad] Endereço:Department of Functional Genomics and Cancer biology, IGBMC, CNRS/INSERM/Université de Strasbourg, 67404 Illkirch-Graffenstaden, France.
[Ti] Título:MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression.
[So] Source:Hum Mol Genet;26(11):2062-2075, 2017 Jun 01.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Mediator occupies a key role in protein coding genes expression in mediating the contacts between gene specific factors and the basal transcription machinery but little is known regarding the role of each Mediator subunits. Mutations in MED12 are linked with a broad spectrum of genetic disorders with X-linked intellectual disability that are difficult to range as Lujan, Opitz-Kaveggia or Ohdo syndromes. Here, we investigated several MED12 patients mutations (p.R206Q, p.N898D, p.R961W, p.N1007S, p.R1148H, p.S1165P and p.R1295H) and show that each MED12 mutations cause specific expression patterns of JUN, FOS and EGR1 immediate early genes (IEGs), reflected by the presence or absence of MED12 containing complex at their respective promoters. Moreover, the effect of MED12 mutations has cell-type specificity on IEG expression. As a consequence, the expression of late responsive genes such as the matrix metalloproteinase-3 and the RE1 silencing transcription factor implicated respectively in neural plasticity and the specific expression of neuronal genes is disturbed as documented for MED12/p.R1295H mutation. In such case, JUN and FOS failed to be properly recruited at their AP1-binding site. Our results suggest that the differences between MED12-related phenotypes are essentially the result of distinct IEGs expression patterns, the later ones depending on the accurate formation of the transcription initiation complex. This might challenge clinicians to rethink the traditional syndromes boundaries and to include genetic criterion in patients' diagnostic.
[Mh] Termos MeSH primário: Genes Precoces/genética
Complexo Mediador/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Blefarofimose/genética
Blefaroptose/genética
Regulação da Expressão Gênica/genética
Genes Ligados ao Cromossomo X/genética
Cardiopatias Congênitas/genética
Deficiência Intelectual/genética
Deficiência Intelectual/metabolismo
Complexo Mediador/metabolismo
Retardo Mental Ligado ao Cromossomo X/genética
Mutação
Fenótipo
Proteínas Repressoras
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (MED12 protein, human); 0 (Mediator Complex); 0 (RE1-silencing transcription factor); 0 (Repressor Proteins)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171017
[Lr] Data última revisão:
171017
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170404
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddx099


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[PMID]:27939639
[Au] Autor:Mattioli F; Schaefer E; Magee A; Mark P; Mancini GM; Dieterich K; Von Allmen G; Alders M; Coutton C; van Slegtenhorst M; Vieville G; Engelen M; Cobben JM; Juusola J; Pujol A; Mandel JL; Piton A
[Ad] Endereço:Institut de Genetique et de Biologie Moleculaire et Cellulaire, 67400 Illkirch-Graffenstaden, France; INSERM U964, 67400 Illkirch-Graffenstaden, France; CNRS UMR 7104, 67400 Illkirch-Graffenstaden, France; Université de Strasbourg, 67400 Illkirch, France; Chaire de Génétique Humaine, Collège de Fran
[Ti] Título:Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis.
[So] Source:Am J Hum Genet;100(1):105-116, 2017 Jan 05.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Intellectual disability (ID) is a common neurodevelopmental disorder exhibiting extreme genetic heterogeneity, and more than 500 genes have been implicated in Mendelian forms of ID. We performed exome sequencing in a large family affected by an autosomal-dominant form of mild syndromic ID with ptosis, growth retardation, and hypotonia, and we identified an inherited 2 bp deletion causing a frameshift in BRPF1 (c.1052_1053del) in five affected family members. BRPF1 encodes a protein modifier of two histone acetyltransferases associated with ID: KAT6A (also known as MOZ or MYST3) and KAT6B (MORF or MYST4). The mRNA transcript was not significantly reduced in affected fibroblasts and most likely produces a truncated protein (p.Val351Glyfs 8). The protein variant shows an aberrant cellular location, loss of certain protein interactions, and decreased histone H3K23 acetylation. We identified BRPF1 deletions or point mutations in six additional individuals with a similar phenotype. Deletions of the 3p25 region, containing BRPF1 and SETD5, cause a defined ID syndrome where most of the clinical features are attributed to SETD5 deficiency. We compared the clinical symptoms of individuals carrying mutations or small deletions of BRPF1 alone or SETD5 alone with those of individuals with deletions encompassing both BRPF1 and SETD5. We conclude that both genes contribute to the phenotypic severity of 3p25 deletion syndrome but that some specific features, such as ptosis and blepharophimosis, are mostly driven by BRPF1 haploinsufficiency.
[Mh] Termos MeSH primário: Proteínas Adaptadoras de Transdução de Sinal/genética
Blefaroptose/genética
Genes Dominantes/genética
Histona Acetiltransferases/metabolismo
Deficiência Intelectual/genética
Mutação
Proteínas Nucleares/genética
[Mh] Termos MeSH secundário: Acetilação
Adulto
Blefarofimose/genética
Criança
Pré-Escolar
Deleção Cromossômica
Cromossomos Humanos Par 3/genética
Feminino
Mutação da Fase de Leitura
Haploinsuficiência/genética
Seres Humanos
Masculino
Metiltransferases/deficiência
Metiltransferases/genética
Hipotonia Muscular/genética
Fenótipo
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Adaptor Proteins, Signal Transducing); 0 (BRPF1 protein, human); 0 (Nuclear Proteins); EC 2.1.1.- (Methyltransferases); EC 2.1.1.- (SETD5 protein, human); EC 2.3.1.48 (Histone Acetyltransferases); EC 2.3.1.48 (KAT6A protein, human); EC 2.3.1.48 (KAT6B protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:170714
[Lr] Data última revisão:
170714
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161213
[St] Status:MEDLINE


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[PMID]:27914838
[Au] Autor:Duarte AF; Akaishi PM; de Molfetta GA; Chodraui-Filho S; Cintra M; Toscano A; Silva WA; Cruz AA
[Ad] Endereço:Division of Oculoplastic and Orbit Surgery, Department of Ophthalmology, Otorhinolaryngology and Head and Neck Surgery, School of Medicine of Ribeirão Preto, University of São Paulo, Ribeirão Preto, São Paulo, Brazil.
[Ti] Título:Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome.
[So] Source:Ophthalmology;124(3):399-406, 2017 Mar.
[Is] ISSN:1549-4713
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:PURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I. The LG volumes were measured on computed tomography (CT) scans in the BPES sample and in a group of age-matched subjects imaged for nonorbital diseases. Sixteen patients were screened for mutations in the FOXL2 gene. MAIN OUTCOME MEASURES: Lacrimal meniscus height, Schirmer test I, presence of superficial punctate keratopathy (SPK), LG volume, and molecular analysis of the FOXL2 gene. RESULTS: Absence of LG was detected bilaterally in 9 patients (42.8%) and unilaterally in 2 patients (9.5%). When considering only patients with measurable LG, the median volume was 0.22 cm in the right eye (range, 0.06-0.36 cm ) and 0.24 cm in the left eye (range, 0.08-0.34 cm ). These values were significantly lower than those for the age-matched controls (median = 0.54 right eye and 0.53 left eye; P < 0.05). There was a significant association between deficiency of tear production and LG volume reduction and agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations, 4 of them novel ones. A significant reduction of LG size or agenesis was associated with mutations affecting protein size (due to underlying changes in the stop codon location) or the DNA-binding forkhead domain (Fisher exact test, P = 0.021). In 3 probands, the underlying genetic defect was not found. CONCLUSIONS: This is the first study reporting LG volumes in BPES, describing a significant number of patients with LG agenesis. The association between alacrima and BPES is not incidental, and a thorough evaluation of tear production is recommended especially if ptosis surgery is planned.
[Mh] Termos MeSH primário: Blefarofimose/diagnóstico por imagem
Anormalidades do Olho/diagnóstico por imagem
Fatores de Transcrição Forkhead/genética
Aparelho Lacrimal/anormalidades
Anormalidades da Pele/diagnóstico por imagem
Tomografia Computadorizada por Raios X
Anormalidades Urogenitais/diagnóstico por imagem
[Mh] Termos MeSH secundário: Adolescente
Adulto
Blefarofimose/genética
Criança
Pré-Escolar
Estudos Transversais
Análise Mutacional de DNA
Éxons/genética
Anormalidades do Olho/genética
Feminino
Proteína Forkhead Box L2
Amplificação de Genes
Estudos de Associação Genética
Seres Humanos
Masculino
Anormalidades da Pele/genética
Microscopia com Lâmpada de Fenda
Lágrimas/fisiologia
Anormalidades Urogenitais/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE; OBSERVATIONAL STUDY
[Nm] Nome de substância:
0 (FOXL2 protein, human); 0 (Forkhead Box Protein L2); 0 (Forkhead Transcription Factors)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:171116
[Lr] Data última revisão:
171116
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161205
[St] Status:MEDLINE


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[PMID]:27604691
[Au] Autor:Elzaiat M; Todeschini AL; Caburet S; Veitia RA
[Ad] Endereço:Molecular and Cellular Pathologies, Institut Jacques Monod, Paris, France.
[Ti] Título:The genetic make-up of ovarian development and function: the focus on the transcription factor FOXL2.
[So] Source:Clin Genet;91(2):173-182, 2017 Feb.
[Is] ISSN:1399-0004
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:In a 46 XY individual, the presence of the Y chromosome harboring the testis-determining factor (SRY) triggers testis determination and differentiation. In a 46 XX individual, the absence of SRY and the activation of genes associated with the female pathway lead to ovarian development. The latter process has long been considered as a default pathway. However, recent studies have cast doubts on this dogma. Here, after a brief overview of the main steps of ovarian development, we focus on three genes WNT4, RSPO1 and FOXL2 that are essential for ovarian determination, differentiation and/or maintenance. Special attention is paid to FOXL2 whose mutations are responsible for the blepharophimosis syndrome, often associated with female infertility, and for cancer. We highlight the cooperation of WNT4, RSPO1 and FOXL2 within a regulatory network and the need for further research to better understand their role in defining and maintaining ovarian identity.
[Mh] Termos MeSH primário: Fatores de Transcrição Forkhead/genética
Ovário/crescimento & desenvolvimento
Trombospondinas/genética
Proteína Wnt4/genética
[Mh] Termos MeSH secundário: Blefarofimose/genética
Blefarofimose/patologia
Feminino
Proteína Forkhead Box L2
Redes Reguladoras de Genes/genética
Seres Humanos
Infertilidade Feminina/genética
Infertilidade Feminina/patologia
Masculino
Ovário/metabolismo
Proteína da Região Y Determinante do Sexo/genética
Anormalidades da Pele/genética
Anormalidades da Pele/patologia
Anormalidades Urogenitais/genética
Anormalidades Urogenitais/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (FOXL2 protein, human); 0 (Forkhead Box Protein L2); 0 (Forkhead Transcription Factors); 0 (RSPO1 protein, human); 0 (SRY protein, human); 0 (Sex-Determining Region Y Protein); 0 (Thrombospondins); 0 (WNT4 protein, human); 0 (Wnt4 Protein)
[Em] Mês de entrada:1706
[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:10.1111/cge.12862


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[PMID]:27452416
[Au] Autor:Radvanszky J; Hyblova M; Durovcikova D; Hikkelova M; Fiedler E; Kadasi L; Turna J; Minarik G; Szemes T
[Ad] Endereço:Institute for Clinical and Translational Research, Biomedical Research Centre, Slovak Academy of Sciences, Bratislava, Slovakia.
[Ti] Título:Complex phenotypes blur conventional borders between Say-Barber-Biesecker-Young-Simpson syndrome and genitopatellar syndrome.
[So] Source:Clin Genet;91(2):339-343, 2017 Feb.
[Is] ISSN:1399-0004
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS) and genitopatellar syndrome (GTPTS) are clinically similar disorders with some overlapping features. Although they are currently considered to be distinct clinical entities, both were found to be caused by de novo truncating sequence variants in the KAT6B (lysine acetyltransferase 6B) gene, strongly suggesting that they are allelic disorders. Herein, we report the clinical and genetic findings in a girl presenting with a serious multiple congenital anomaly syndrome with phenotypic features overlapping both SBBYSS and GTPTS; pointing out that the clinical distinction between these disorders is not exact and there do exist patients, in whom conventional clinical classification is problematic. Genetic analyses revealed a truncating c.4592delA (p.Asn1531Thrfs*18) variant in the last KAT6B exon. Our findings support that phenotypes associated with typical KAT6B disease-causing variants should be referred to as 'KAT6B spectrum disorders' or 'KAT6B related disorders', rather than their current SBBYSS and GTPTS classification.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico
Blefarofimose/diagnóstico
Hipotireoidismo Congênito/diagnóstico
Anormalidades Craniofaciais/diagnóstico
Cardiopatias Congênitas/diagnóstico
Histona Acetiltransferases/genética
Deficiência Intelectual/diagnóstico
Instabilidade Articular/diagnóstico
Rim/anormalidades
Patela/anormalidades
Transtornos Psicomotores/diagnóstico
Escroto/anormalidades
Anormalidades Urogenitais/diagnóstico
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Anormalidades Múltiplas/patologia
Blefarofimose/genética
Blefarofimose/patologia
Pré-Escolar
Hipotireoidismo Congênito/genética
Hipotireoidismo Congênito/patologia
Anormalidades Craniofaciais/genética
Anormalidades Craniofaciais/patologia
Éxons
Facies
Feminino
Cardiopatias Congênitas/genética
Cardiopatias Congênitas/patologia
Seres Humanos
Deficiência Intelectual/genética
Deficiência Intelectual/patologia
Instabilidade Articular/genética
Instabilidade Articular/patologia
Rim/patologia
Mutação
Patela/patologia
Fenótipo
Transtornos Psicomotores/genética
Transtornos Psicomotores/patologia
Escroto/patologia
Anormalidades Urogenitais/genética
Anormalidades Urogenitais/patologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
EC 2.3.1.48 (Histone Acetyltransferases); EC 2.3.1.48 (KAT6B protein, human)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170626
[Lr] Data última revisão:
170626
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160726
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12840


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[PMID]:27115209
[Au] Autor:Zhou L; Wang T; Wang J
[Ad] Endereço:The 3rd Department, Plastic Surgery Hospital of the Chinese Academy of Medical Science, Peking Union Medical College, Beijing, China.
[Ti] Título:Blepharophimosis Ptosis Epicanthus Inversus Syndrome With Congenital Hypothyroidism and Brachydactyly in a 7-Year-Old Girl.
[So] Source:Ophthal Plast Reconstr Surg;33(3S Suppl 1):S82-S84, 2017 May/Jun.
[Is] ISSN:1537-2677
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:A 7-year-old female presented with blepharophimosis ptosis epicanthus inversus syndrome with congenital hypothyroidism and brachydactyly. She displayed typical manifestations of type II blepharophimosis ptosis epicanthus inversus syndrome (normal uterus position, ovarian volume, and normal serum hormone levels). She takes levothyroxine sodium daily due to her congenital hypothyroidism. Karyotype analysis and genetic analysis of FOXL2 coding sequence was found to be normal. mtDNA A3243G, A8344G, 8993, and 13513 genes were also normal. The absence of mutations excluded mitochondrial encephalomyopathies. To the best of our knowledge, this is the first reported case of blepharophimosis ptosis epicanthus inversus syndrome with congenital hypothyroidism and brachydactyly.
[Mh] Termos MeSH primário: Anormalidades Múltiplas
Blefarofimose/diagnóstico
Braquidactilia/diagnóstico
Hipotireoidismo Congênito/diagnóstico
Testes Genéticos/métodos
Anormalidades da Pele/diagnóstico
Anormalidades Urogenitais/diagnóstico
[Mh] Termos MeSH secundário: Blefarofimose/genética
Braquidactilia/genética
Criança
Hipotireoidismo Congênito/genética
Feminino
Seres Humanos
Anormalidades da Pele/genética
Anormalidades Urogenitais/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170901
[Lr] Data última revisão:
170901
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160427
[St] Status:MEDLINE
[do] DOI:10.1097/IOP.0000000000000708


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[PMID]:27843126
[Au] Autor:Delle Vedove A; Storbeck M; Heller R; Hölker I; Hebbar M; Shukla A; Magnusson O; Cirak S; Girisha KM; O'Driscoll M; Loeys B; Wirth B
[Ad] Endereço:Institute of Human Genetics, University of Cologne, 50931 Cologne, Germany; Center for Molecular Medicine Cologne, University of Cologne, 50931 Cologne, Germany; Institute for Genetics, University of Cologne, 50674 Cologne, Germany.
[Ti] Título:Biallelic Loss of Proprioception-Related PIEZO2 Causes Muscular Atrophy with Perinatal Respiratory Distress, Arthrogryposis, and Scoliosis.
[So] Source:Am J Hum Genet;99(5):1206-1216, 2016 Nov 03.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report ten individuals of four independent consanguineous families from Turkey, India, Libya, and Pakistan with a variable clinical phenotype that comprises arthrogryposis, spontaneously resolving respiratory insufficiency at birth, muscular atrophy predominantly of the distal lower limbs, scoliosis, and mild distal sensory involvement. Using whole-exome sequencing, SNPchip-based linkage analysis, DNA microarray, and Sanger sequencing, we identified three independent homozygous frameshift mutations and a homozygous deletion of two exons in PIEZO2 that segregated in all affected individuals of the respective family. The mutations are localized in the N-terminal and central region of the gene, leading to nonsense-mediated transcript decay and consequently to lack of PIEZO2 protein. In contrast, heterozygous gain-of-function missense mutations, mainly localized at the C terminus, cause dominant distal arthrogryposis 3 (DA3), distal arthrogryposis 5 (DA5), or Marden-Walker syndrome (MWKS), which encompass contractures of hands and feet, scoliosis, ophthalmoplegia, and ptosis. PIEZO2 encodes a mechanosensitive ion channel that plays a major role in light-touch mechanosensation and has recently been identified as the principal mechanotransduction channel for proprioception. Mice ubiquitously depleted of PIEZO2 are postnatally lethal. However, individuals lacking PIEZO2 develop a not life-threatening, slowly progressive disorder, which is likely due to loss of PIEZO2 protein in afferent neurons leading to disturbed proprioception causing aberrant muscle development and function. Here we report a recessively inherited PIEZO2-related disease and demonstrate that depending on the type of mutation and the mode of inheritance, PIEZO2 causes clinically distinguishable phenotypes.
[Mh] Termos MeSH primário: Artrogripose/genética
Canais Iônicos/genética
Atrofia Muscular/genética
Propriocepção
Síndrome do Desconforto Respiratório do Recém-Nascido/genética
Escoliose/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/diagnóstico
Anormalidades Múltiplas/genética
Adolescente
Adulto
Alelos
Aracnodactilia/diagnóstico
Aracnodactilia/genética
Artrogripose/diagnóstico
Blefarofimose/diagnóstico
Blefarofimose/genética
Criança
Pré-Escolar
Doenças do Tecido Conjuntivo/diagnóstico
Doenças do Tecido Conjuntivo/genética
Contratura/diagnóstico
Contratura/genética
Feminino
Estudo de Associação Genômica Ampla
Homozigoto
Seres Humanos
Índia
Canais Iônicos/metabolismo
Líbia
Masculino
Mecanotransdução Celular
Atrofia Muscular/diagnóstico
Mutação de Sentido Incorreto
Oftalmoplegia/diagnóstico
Oftalmoplegia/genética
Paquistão
Linhagem
Polimorfismo de Nucleotídeo Único
Síndrome do Desconforto Respiratório do Recém-Nascido/diagnóstico
Escoliose/diagnóstico
Turquia
Adulto Jovem
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Ion Channels); 0 (PIEZO2 protein, human)
[Em] Mês de entrada:1705
[Cu] Atualização por classe:171125
[Lr] Data última revisão:
171125
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161116
[St] Status:MEDLINE



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