A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
Am J Med Genet A
; 170(7): 1868-73, 2016 07.
Article
em En
| MEDLINE
| ID: mdl-27108999
ABSTRACT
We report on a sib pair of Indian origin presenting with intellectual disability, dysmorphism, and macrocephaly. Exome sequencing revealed a homozygous splice site HERC1 mutation in both probands. Functional analysis revealed use of an alternate splice site resulting in formation of a downstream stop codon and nonsense mediated decay. In the light of recent reports of HERC1 mutations in two families with a similar phenotypic presentation, this report reiterates the pathogenic nature and clinical consequences of HERC1 disruption. © 2016 Wiley Periodicals, Inc.
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Base de dados:
MEDLINE
Assunto principal:
Predisposição Genética para Doença
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Fatores de Troca do Nucleotídeo Guanina
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Megalencefalia
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Deficiência Intelectual
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article