Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

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.
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Soumis le : jeudi 21 juin 2018 - 09:17:04
Dernière modification le : vendredi 10 janvier 2020 - 21:09:54

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Nicola Chassaing, Nicola Ragge, Julie Plaisancié, Oliver Patat, David Geneviève, et al.. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. American Journal of Medical Genetics Part A, Wiley, 2016, 170 (7), pp.1895 - 1898. ⟨10.1002/ajmg.a.37667⟩. ⟨hal-01819815⟩

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