Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.
Am J Med Genet A
; 170(7): 1895-8, 2016 07.
Article
em En
| MEDLINE
| ID: mdl-27103084
ABSTRACT
Anophthalmia and microphthalmia are the most severe malformations of the eye, referring to a congenital absence, and a reduced size of the eyeball respectively. More than 20 genes have been shown to be mutated in patients with syndromic and non-syndromic forms of anophthalmia-microphthalmia. In a recent study combining autozygome and exome analysis, a homozygous loss of function mutation in TENM3 (previously named ODZ3) was reported in two siblings with isolated bilateral colobomatous microphthalmia from a consanguineous Saudi family. Herein, we report a third patient (not related to the previously reported family) with bilateral colobomatous microphthalmia and developmental delay in whom genetic studies identified a homozygous TENM3 splicing mutation c.2968-2A>T (p.Val990Cysfs*13). This report supports the association of TENM3 mutations with colobomatous microphthalmia and expands the phenotypic spectrum associated with mutations in this gene. © 2016 Wiley Periodicals, Inc.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Deficiências do Desenvolvimento
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Coloboma
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Microftalmia
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Opacidade da Córnea
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Predisposição Genética para Doença
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Encefalopatias Metabólicas Congênitas
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Proteínas de Membrana
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Deficiência Intelectual
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Microcefalia
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Proteínas do Tecido Nervoso
Tipo de estudo:
Prognostic_studies
Limite:
Child
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Humans
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Male
Idioma:
En
Ano de publicação:
2016
Tipo de documento:
Article