Coffin-Siris syndrome: phenotypic evolution of a novel SMARCA4 mutation.
Am J Med Genet A
; 164A(7): 1808-14, 2014 Jul.
Article
em En
| MEDLINE
| ID: mdl-24700502
ABSTRACT
Coffin-Siris Syndrome (CSS) is an intellectual disability disorder caused by mutation of components of the SWI/SNF chromatin-remodeling complex. We describe the evolution of the phenotypic features for a male patient with CSS from birth to age 7 years and 9 months and by review of reported CSS patients, we expand the phenotype to include neonatal and infantile hypertonia and upper airway obstruction. The propositus had a novel de novo heterozygous missense mutation in exon 17 of SMARCA4 (NM_001128849.1c.2434C>T (NP_001122321.1p.Leu812Phe)). This is the first reported mutation within motif Ia of the SMARCA4 SNF2 domain. In summary, SMARCA4-associated CSS is a pleiotropic disorder in which the pathognomic clinical features evolve and for which the few reported individuals do not demonstrate a clear genotype-phenotype correlation.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Fatores de Transcrição
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Anormalidades Múltiplas
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Deformidades Congênitas da Mão
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Proteínas Nucleares
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DNA Helicases
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Face
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Estudos de Associação Genética
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Deficiência Intelectual
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Micrognatismo
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Ano de publicação:
2014
Tipo de documento:
Article