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  1 / 173 MEDLINE  
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[PMID]:28872989
[Au] Autor:Ko SJ; Seo JY; Kwon YD; Cheon K; Park JH
[Ti] Título:Orthodontic Treatment in Conjunction with Twin-bock Treatment and Growth Hormone Therapy in Silver Russell Syndrome.
[So] Source:J Clin Pediatr Dent;41(5):392-397, 2017.
[Is] ISSN:1053-4628
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Silver-Russell syndrome (SRS) is a very rare genetic disorder characterized by intrauterine growth retardation, short stature, and typical craniofacial abnormalities including micrognathia. While growth hormone (GH) therapy in children with SRS significantly improves somatic growth, functional orthopedic treatment can also be effective in adolescents with mandibular deficiency. We report the effects of Phase 1 functional orthopedic treatment of a twin-block appliance in conjunction with GH administration in a 9-year-old boy with GH deficiency and SRS, and the result of the subsequent Phase 2 orthodontic treatment.
[Mh] Termos MeSH primário: Má Oclusão de Angle Classe II/terapia
Aparelhos Ortodônticos
Ortodontia Corretiva/métodos
Síndrome de Silver-Russell/complicações
[Mh] Termos MeSH secundário: Criança
Hormônio do Crescimento Humano/uso terapêutico
Seres Humanos
Masculino
Má Oclusão/etiologia
Má Oclusão/terapia
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
12629-01-5 (Human Growth Hormone)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170926
[Lr] Data última revisão:
170926
[Sb] Subgrupo de revista:D
[Da] Data de entrada para processamento:170906
[St] Status:MEDLINE
[do] DOI:10.17796/1053-4628-41.5.392


  2 / 173 MEDLINE  
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[PMID]:28870985
[Au] Autor:Shapiro L; Chatterjee S; Ramadan DG; Davies KM; Savage MO; Metherell LA; Storr HL
[Ad] Endereço:Centre for EndocrinologyWilliam Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
[Ti] Título:Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity.
[So] Source:Eur J Endocrinol;177(6):485-501, 2017 Dec.
[Is] ISSN:1479-683X
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:BACKGROUND: GH insensitivity (GHI) is characterised by short stature, IGF-1 deficiency and normal/elevated serum GH. IGF-1 insensitivity results in pre- and post-natal growth failure with normal/high IGF-1 levels. The prevalence of genetic defects is unknown. OBJECTIVE: To identify the underlying genetic diagnoses in a paediatric cohort with GH or IGF-1 insensitivity using candidate gene (CGS) and whole-exome sequencing (WES) and assess factors associated with the discovery of a genetic defect. METHODS: We undertook a prospective study of 132 patients with short stature and suspected GH or IGF-1 insensitivity referred to our centre for genetic analysis. 107 (96 GHI, 88 probands; 11 IGF-1 insensitivity, 9 probands) underwent CGS. WES was performed in those with no defined genetic aetiology following CGS. RESULTS: A genetic diagnosis was discovered 38/107 (36%) patients (32% probands) by CGS. WES revealed 11 patients with genetic variants in genes known to cause short stature. A further 2 patients had hypomethylation in the H19/IGF2 region or mUPD7 consistent with Silver-Russell Syndrome (total with genetic diagnosis 51/107, 48% or 41/97, 42% probands). WES also identified homozygous putative variants in and in 2 patients. Low height SDS and consanguinity were highly predictive for identifying a genetic defect. CONCLUSIONS: Comprehensive genetic testing confirms the genetic heterogeneity of GH/IGF-1 insensitivity and successfully identified the genetic aetiology in a significant proportion of cases. WES is rapid and may isolate genetic variants that have been missed by traditional clinically driven genetic testing. This emphasises the benefits of specialist diagnostic centres.
[Mh] Termos MeSH primário: Nanismo/genética
Transtornos do Crescimento/genética
Hipotonia Muscular/genética
Síndrome de Silver-Russell/genética
Coluna Vertebral/anormalidades
[Mh] Termos MeSH secundário: Adolescente
Proteínas de Transporte/genética
Criança
Pré-Escolar
Proteínas Culina/genética
Proteínas do Citoesqueleto/genética
Metilação de DNA
Nanismo/diagnóstico
Nanismo/metabolismo
Exoma/genética
Proteína do Grupo de Complementação A da Anemia de Fanconi/genética
Feminino
Glicoproteínas/genética
Transtornos do Crescimento/diagnóstico
Transtornos do Crescimento/metabolismo
Hormônio do Crescimento Humano/metabolismo
Seres Humanos
Lactente
Fator de Crescimento Insulin-Like I/metabolismo
Fator de Crescimento Insulin-Like II/genética
Masculino
Técnicas de Diagnóstico Molecular
Hipotonia Muscular/diagnóstico
Hipotonia Muscular/metabolismo
Receptores de Somatomedina/genética
Análise de Sequência de DNA
Síndrome de Silver-Russell/diagnóstico
Síndrome de Silver-Russell/metabolismo
Coluna Vertebral/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (CUL7 protein, human); 0 (Carrier Proteins); 0 (Cullin Proteins); 0 (Cytoskeletal Proteins); 0 (FANCA protein, human); 0 (Fanconi Anemia Complementation Group A Protein); 0 (Glycoproteins); 0 (IGF1R protein, human); 0 (IGF2 protein, human); 0 (OBSL1 protein, human); 0 (Receptors, Somatomedin); 0 (insulin-like growth factor binding protein, acid labile subunit); 0 (somatotropin-binding protein); 12629-01-5 (Human Growth Hormone); 67763-96-6 (Insulin-Like Growth Factor I); 67763-97-7 (Insulin-Like Growth Factor II)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171106
[Lr] Data última revisão:
171106
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170906
[St] Status:MEDLINE
[do] DOI:10.1530/EJE-17-0453


  3 / 173 MEDLINE  
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[PMID]:28529015
[Au] Autor:Meyer R; Soellner L; Begemann M; Dicks S; Fekete G; Rahner N; Zerres K; Elbracht M; Eggermann T
[Ad] Endereço:Institute of Human Genetics, University Hospital, Technical University Aachen (Rheinisch-Westfälische Technische Hochschule), Aachen, Germany.
[Ti] Título:Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.
[So] Source:J Pediatr;187:206-212.e1, 2017 Aug.
[Is] ISSN:1097-6833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:OBJECTIVE: To investigate the contribution of differential diagnoses to the mutation spectrum of patients referred for Silver-Russell syndrome (SRS) testing. STUDY DESIGN: Forty-seven patients referred for molecular testing for SRS were examined after exclusion of one of the SRS-associated alterations. After clinical classification, a targeted next generation sequencing approach comprising 25 genes associated with other diagnoses or postulated as SRS candidate genes was performed. RESULTS: By applying the Netchine-Harbinson clinical scoring system, indication for molecular testing for SRS was confirmed in 15 out of 47 patients. In 4 out of these 15 patients, disease-causing variants were found in genes associated with other diagnoses. These patients carried mutations associated with Bloom syndrome, Mulibrey nanism, KBG syndrome, or IGF1R-associated short stature. We could not detect any pathogenic mutation in patients with a negative clinical score. CONCLUSIONS: Some of the differential diagnoses detected in the cohort presented here have a major impact on clinical management. Therefore, we emphasize that the molecular defects associated with these clinical pictures should be excluded before the clinical diagnosis "SRS" is made. Finally, we could show that a broad molecular approach including the differential diagnoses of SRS increases the detection rate.
[Mh] Termos MeSH primário: Sequenciamento de Nucleotídeos em Larga Escala/métodos
Síndrome de Silver-Russell/diagnóstico
[Mh] Termos MeSH secundário: Adolescente
Criança
Pré-Escolar
Feminino
Seres Humanos
Lactente
Masculino
Mutação
Linhagem
Fenótipo
Síndrome de Silver-Russell/genética
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170907
[Lr] Data última revisão:
170907
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170523
[St] Status:MEDLINE


  4 / 173 MEDLINE  
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[PMID]:28082544
[Au] Autor:Couzin-Frankel J
[Ti] Título:Fateful imprints.
[So] Source:Science;355(6321):122-125, 2017 Jan 13.
[Is] ISSN:1095-9203
[Cp] País de publicação:United States
[La] Idioma:eng
[Mh] Termos MeSH primário: Síndrome de Beckwith-Wiedemann/genética
Impressão Genômica
Fator de Crescimento Insulin-Like II/genética
Doenças Raras/genética
Síndrome de Silver-Russell/genética
[Mh] Termos MeSH secundário: Síndrome de Beckwith-Wiedemann/terapia
Fertilização In Vitro/efeitos adversos
Seres Humanos
Lactente
Recém-Nascido
Doenças Raras/terapia
Síndrome de Silver-Russell/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
67763-97-7 (Insulin-Like Growth Factor II)
[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:170114
[St] Status:MEDLINE
[do] DOI:10.1126/science.355.6321.122


  5 / 173 MEDLINE  
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[PMID]:28001454
[Au] Autor:Smeets CC; Renes JS; van der Steen M; Hokken-Koelega AC
[Ad] Endereço:Department of Pediatrics, Subdivision Endocrinology, Erasmus University Medical Centre, 3015 CN Rotterdam, The Netherlands; and.
[Ti] Título:Metabolic Health and Long-Term Safety of Growth Hormone Treatment in Silver-Russell Syndrome.
[So] Source:J Clin Endocrinol Metab;102(3):983-991, 2017 Mar 01.
[Is] ISSN:1945-7197
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Context: Children with Silver-Russell syndrome (SRS) are born small for gestational age (SGA) and remain short. Growth hormone (GH) treatment improves height in short SGA children, including those with SRS. Data on metabolic health and long-term safety of GH treatment in SRS are lacking. Objective: To investigate metabolic health in SRS patients during and until 2 years after discontinuation of GH treatment. Design: Metabolic health was assessed longitudinally at GH-start, GH-stop, 6 months, and 2 years thereafter. Patients: Twenty-nine SRS patients vs 171 non-SRS subjects born SGA. Main Outcome Measures: Lean body mass (LBM), fat mass percentage (FM%), insulin sensitivity (Si), ß-cell function, blood pressure, and serum lipids. Results: At GH-start [mean age (standard deviation) 5.4 (2.1) years in SRS and 6.7 (2.0) years in non-SRS (P = 0.003)], blood pressure, serum lipids, glucose, and insulin levels were similar and within normal ranges in SRS and non-SRS. LBM standard deviation score (SDS) and FM% SDS were lower than average in both groups. During treatment, LBM SDS remained stable whereas FM% SDS increased in both groups. During the 2 years after GH-stop, LBM decreased and FM% increased, whereas Si and ß-cell function improved. At 2 years after GH-stop (mean age 18 years), all parameters were similar and within normal ranges in SRS and non-SRS. None of the SRS patients developed metabolic syndrome, diabetes mellitus type 2, or adverse events. Conclusion: GH-treated SRS patients have a similar metabolic health and safety profile as non-SRS subjects born SGA, both during and until 2 years after GH-stop.
[Mh] Termos MeSH primário: Glicemia/metabolismo
HDL-Colesterol/metabolismo
LDL-Colesterol/metabolismo
Hormônio do Crescimento/uso terapêutico
Resistência à Insulina
Síndrome de Silver-Russell/tratamento farmacológico
Triglicerídeos/metabolismo
[Mh] Termos MeSH secundário: Adolescente
Pressão Sanguínea
Composição Corporal
Estudos de Casos e Controles
Criança
Pré-Escolar
Feminino
Seres Humanos
Recém-Nascido Pequeno para a Idade Gestacional
Células Secretoras de Insulina
Masculino
Síndrome de Silver-Russell/metabolismo
Fatores de Tempo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Blood Glucose); 0 (Cholesterol, HDL); 0 (Cholesterol, LDL); 0 (Triglycerides); 9002-72-6 (Growth Hormone)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170612
[Lr] Data última revisão:
170612
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:161222
[St] Status:MEDLINE
[do] DOI:10.1210/jc.2016-3388


  6 / 173 MEDLINE  
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[PMID]:27612309
[Au] Autor:Jurkiewicz D; Kugaudo M; Skórka A; Smigiel R; Smyk M; Ciara E; Chrzanowska K; Krajewska-Walasek M
[Ad] Endereço:Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
[Ti] Título:A novel IGF2/H19 domain triplication in the 11p15.5 imprinting region causing either Beckwith-Wiedemann or Silver-Russell syndrome in a single family.
[So] Source:Am J Med Genet A;173(1):72-78, 2017 Jan.
[Is] ISSN:1552-4833
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Defects of 11p15.5 imprinting result in two growth disorders with opposite phenotypes: Beckwith-Wiedemann syndrome (BWS) characterized by overgrowth and Silver-Russell syndrome (SRS) associated with growth retardation. In a small group of patients with BWS and SRS, copy number variations (CNVs) involving the 11p15.5 region are observed; and their effects depend on the localization, size, and the parental mode of transmission. We report a novel IGF2/H19 domain cis-triplication in the 11p15.5 region identified in a girl with BWS and her father with symptoms of SRS. To the best of our knowledge, this is the first report of IGF2/H19 domain triplication associated with BWS or SRS and the second report of an additional copy of this region in an individual with clinical features of SRS. This study shows that paternal IGF2/H19 domain triplication results in BWS, gives additional support to the hypothesis that the maternal amplification of IGF2/H19 domain may lead to the manifestation of SRS and underlines difficulties of genetic counseling in patients with CNVs involving the 11p15.5 region. © 2016 Wiley Periodicals, Inc.
[Mh] Termos MeSH primário: Síndrome de Beckwith-Wiedemann/diagnóstico
Síndrome de Beckwith-Wiedemann/genética
Cromossomos Humanos Par 11
Impressão Genômica
Fator de Crescimento Insulin-Like II/genética
RNA Longo não Codificante/genética
Síndrome de Silver-Russell/diagnóstico
Síndrome de Silver-Russell/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Hibridização Genômica Comparativa
Variações do Número de Cópias de DNA
Metilação de DNA
Feminino
Amplificação de Genes
Estudos de Associação Genética
Seres Humanos
Lactente
Masculino
Repetições de Microssatélites
Modelos Genéticos
Linhagem
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Nm] Nome de substância:
0 (H19 long non-coding RNA); 0 (RNA, Long Noncoding); 67763-97-7 (Insulin-Like Growth Factor II)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171019
[Lr] Data última revisão:
171019
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160910
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37964


  7 / 173 MEDLINE  
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[PMID]:27585961
[Au] Autor:Wakeling EL; Brioude F; Lokulo-Sodipe O; O'Connell SM; Salem J; Bliek J; Canton AP; Chrzanowska KH; Davies JH; Dias RP; Dubern B; Elbracht M; Giabicani E; Grimberg A; Grønskov K; Hokken-Koelega AC; Jorge AA; Kagami M; Linglart A; Maghnie M; Mohnike K; Monk D; Moore GE; Murray PG; Ogata T; Petit IO; Russo S; Said E; Toumba M; Tümer Z; Binder G; Eggermann T; Harbison MD; Temple IK; Mackay DJ; Netchine I
[Ad] Endereço:North West Thames Regional Genetics Service, London North West Healthcare NHS Trust, Watford Road, Harrow HA1 3UJ, UK.
[Ti] Título:Diagnosis and management of Silver-Russell syndrome: first international consensus statement.
[So] Source:Nat Rev Endocrinol;13(2):105-124, 2017 Feb.
[Is] ISSN:1759-5037
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:This Consensus Statement summarizes recommendations for clinical diagnosis, investigation and management of patients with Silver-Russell syndrome (SRS), an imprinting disorder that causes prenatal and postnatal growth retardation. Considerable overlap exists between the care of individuals born small for gestational age and those with SRS. However, many specific management issues exist and evidence from controlled trials remains limited. SRS is primarily a clinical diagnosis; however, molecular testing enables confirmation of the clinical diagnosis and defines the subtype. A 'normal' result from a molecular test does not exclude the diagnosis of SRS. The management of children with SRS requires an experienced, multidisciplinary approach. Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial challenges. An early emphasis on adequate nutritional status is important, with awareness that rapid postnatal weight gain might lead to subsequent increased risk of metabolic disorders. The benefits of treating patients with SRS with growth hormone include improved body composition, motor development and appetite, reduced risk of hypoglycaemia and increased height. Clinicians should be aware of possible premature adrenarche, fairly early and rapid central puberty and insulin resistance. Treatment with gonadotropin-releasing hormone analogues can delay progression of central puberty and preserve adult height potential. Long-term follow up is essential to determine the natural history and optimal management in adulthood.
[Mh] Termos MeSH primário: Gerenciamento Clínico
Internacionalidade
Síndrome de Silver-Russell/diagnóstico
Síndrome de Silver-Russell/terapia
[Mh] Termos MeSH secundário: Hormônio Liberador de Gonadotropina/uso terapêutico
Hormônio do Crescimento Humano/uso terapêutico
Seres Humanos
Síndrome de Silver-Russell/metabolismo
[Pt] Tipo de publicação:CONSENSUS DEVELOPMENT CONFERENCE; JOURNAL ARTICLE
[Nm] Nome de substância:
12629-01-5 (Human Growth Hormone); 33515-09-2 (Gonadotropin-Releasing Hormone)
[Em] Mês de entrada:1707
[Cu] Atualização por classe:170707
[Lr] Data última revisão:
170707
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160903
[St] Status:MEDLINE
[do] DOI:10.1038/nrendo.2016.138


  8 / 173 MEDLINE  
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[PMID]:27172843
[Au] Autor:Sachwitz J; Meyer R; Fekete G; Spranger S; Matuleviciene A; Kucinskas V; Bach A; Luczay A; Brüchle NO; Eggermann K; Zerres K; Elbracht M; Eggermann T
[Ad] Endereço:Institute of Human Genetics, RWTH Aachen, Aachen, Germany.
[Ti] Título:NSD1 duplication in Silver-Russell syndrome (SRS): molecular karyotyping in patients with SRS features.
[So] Source:Clin Genet;91(1):73-78, 2017 Jan.
[Is] ISSN:1399-0004
[Cp] País de publicação:Denmark
[La] Idioma:eng
[Ab] Resumo:Silver-Russell syndrome (SRS) is a growth retardation syndrome characterized by intrauterine and postnatal growth retardation, relative macrocephaly and protruding forehead, body asymmetry and feeding difficulties. Nearly 50% of cases show a hypomethylation in 11p15.5, in 10% maternal uniparental disomy of chromosome 7 is present. A significant number of patients with SRS features also exhibit chromosomal aberrations. We analyzed 43 individuals referred for SRS genetic testing by molecular karyotyping. Pathogenic variants could be detected in five of them, including a NSD1 duplication in 5q35 and a 14q32 microdeletion. NSD1 deletions are detectable in overgrowth disorders (Sotos syndrome and Beckwith-Wiedemann syndrome), whereas NSD1 duplications are associated with growth retardation. The 14q32 deletion is typically associated with Temple syndrome (TS14), but the identification of a patient in our cohort reflects the clinical overlap between TS14 and SRS. As determination of molecular subtypes is the basis for a directed counseling and therapy, the identification of pathogenic variants in >10% of the total cohort of patients referred for SRS testing and in >16% of characteristic individuals with the characteristic SRS phenotype confirms the need to apply molecular karyotyping in this cohort.
[Mh] Termos MeSH primário: Cromossomos Humanos Par 5/genética
Duplicação Gênica
Peptídeos e Proteínas de Sinalização Intracelular/genética
Proteínas Nucleares/genética
Síndrome de Silver-Russell/genética
[Mh] Termos MeSH secundário: Pré-Escolar
Deleção Cromossômica
Cromossomos Humanos Par 14/genética
Estudos de Coortes
Feminino
Testes Genéticos
Seres Humanos
Lactente
Recém-Nascido
Cariotipagem
Masculino
Fenótipo
Síndrome de Silver-Russell/diagnóstico
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Intracellular Signaling Peptides and Proteins); 0 (NSD1 protein, human); 0 (Nuclear Proteins)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170613
[Lr] Data última revisão:
170613
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160514
[St] Status:MEDLINE
[do] DOI:10.1111/cge.12803


  9 / 173 MEDLINE  
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[PMID]:27798108
[Au] Autor:McNamara GI; Davis BA; Dwyer DM; John RM; Isles AR
[Ad] Endereço:MRC Centre for Neuropsychiatric Genetics and Genomics, School of Medicine, Cardiff University, Cardiff, UK.
[Ti] Título:Behavioural abnormalities in a novel mouse model for Silver Russell Syndrome.
[So] Source:Hum Mol Genet;25(24):5407-5417, 2016 Dec 15.
[Is] ISSN:1460-2083
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Silver Russell Syndrome (SRS) syndrome is an imprinting disorder involving low birth weight with complex genetics and diagnostics. Some rare SRS patients carry maternally inherited microduplications spanning the imprinted genes CDKN1C, PHLDA2, SLC22A18 and KCNQ1, suggesting that overexpression of one of more of these genes contributes to the SRS phenotype. While this molecular alteration is very rare, feeding difficulties are a very common feature of this condition. Given that SRS children also have very low body mass index, understanding the underpinning biology of the eating disorder is important, as well as potential co-occurring behavioural alterations. Here, we report that a mouse model of this microduplication exhibits a number of behavioural deficits. The mice had a blunted perception of the palatability of a given foodstuff. This perception may underpin the fussiness with food. We additionally report hypoactivity, unrelated to anxiety or motoric function, and a deficit in the appropriate integration of incoming sensory information. Importantly, using a second genetic model, we were able to attribute all altered behaviours to elevated expression of a single gene, Cdkn1c. This is the first report linking elevated Cdkn1c to altered behaviour in mice. Importantly, the findings from our study may have relevance for SRS and highlight a potentially underreported aspect of this disorder.
[Mh] Termos MeSH primário: Comportamento Animal/fisiologia
Inibidor de Quinase Dependente de Ciclina p57/genética
Hipercinese/genética
Síndrome de Silver-Russell/genética
[Mh] Termos MeSH secundário: Animais
Inibidor de Quinase Dependente de Ciclina p57/biossíntese
Metilação de DNA/genética
Modelos Animais de Doenças
Duplicação Gênica
Impressão Genômica
Seres Humanos
Hipercinese/fisiopatologia
Recém-Nascido de Baixo Peso
Camundongos
Camundongos Transgênicos
Síndrome de Silver-Russell/fisiopatologia
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Cdkn1c protein, mouse); 0 (Cyclin-Dependent Kinase Inhibitor p57)
[Em] Mês de entrada:1706
[Cu] Atualização por classe:170609
[Lr] Data última revisão:
170609
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:161101
[St] Status:MEDLINE
[do] DOI:10.1093/hmg/ddw357


  10 / 173 MEDLINE  
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[PMID]:27468965
[Au] Autor:Luk HM; Yeung KS; Wong WL; Chung BH; Tong TM; Lo IF
[Ad] Endereço:Clinical Genetic Service, Department of Health, 3/F, Cheung Sha Wan Jockey Club Clinic, 2 Kwong Lee Road, Sham Shui Po, Hong Kong.
[Ti] Título:Silver-Russell syndrome in Hong Kong.
[So] Source:Hong Kong Med J;22(6):526-33, 2016 Dec.
[Is] ISSN:1024-2708
[Cp] País de publicação:China
[La] Idioma:eng
[Ab] Resumo:OBJECTIVES: To examine the molecular pathogenetic mechanisms, (epi)genotype-phenotype correlation, and the performance of the three clinical scoring systems-namely Netchine et al, Bartholdi et al, and Birmingham scores-for patients with Silver-Russell syndrome in Hong Kong. METHODS: This retrospective case series was conducted at two tertiary genetic clinics, the Clinical Genetic Service, Department of Health, and clinical genetic clinic in Queen Mary Hospital in Hong Kong. All records of patients with suspected Silver-Russell syndrome under the care of the two genetic clinics between January 2010 and September 2015 were retrieved from the computer database. RESULTS: Of the 28 live-birth patients with Silver-Russell syndrome, 35.7% had H19 loss of DNA methylation, 21.4% had maternal uniparental disomy of chromosome 7, 3.6% had mosaic maternal uniparental disomy of chromosome 11, and the remaining 39.3% were Silver-Russell syndrome of unexplained molecular origin. No significant correlation between (epi)genotype and phenotype could be identified between H19 loss of DNA methylation and maternal uniparental disomy of chromosome 7. Comparison of molecularly confirmed patients and patients with Silver-Russell syndrome of unexplained origin revealed that postnatal microcephaly and café-au-lait spots were more common in the latter group, and body and limb asymmetry was more common in the former group. Performance analysis showed the Netchine et al and Birmingham scoring systems had similar sensitivity in identifying Hong Kong Chinese subjects with Silver-Russell syndrome. CONCLUSION: This is the first territory-wide study of Silver-Russell syndrome in Hong Kong. The clinical features and the spectrum of underlying epigenetic defects were comparable to those reported in western populations.
[Mh] Termos MeSH primário: Metilação de DNA/genética
Síndrome de Silver-Russell/epidemiologia
Síndrome de Silver-Russell/genética
Dissomia Uniparental/genética
[Mh] Termos MeSH secundário: Anormalidades Múltiplas
Adolescente
Manchas Café com Leite/epidemiologia
Criança
Pré-Escolar
Epigênese Genética
Feminino
Genótipo
Hong Kong/epidemiologia
Seres Humanos
Masculino
Microcefalia/epidemiologia
Fenótipo
Estudos Retrospectivos
Adulto Jovem
[Pt] Tipo de publicação:COMPARATIVE STUDY; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170817
[Lr] Data última revisão:
170817
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:160730
[St] Status:MEDLINE



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