Journal Article

Confirmation of TENM3 Involvement in Autosomal Recessive Colobomatous Microphthalmia


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.

Attached files


Chassaing, N
Ragge, N
Plaisancie, J
Patat, O
Genevieve, D
Rivier, F
Malrieu-Eliaou, C
Hamel, C
Kaplan, J
Calvas, P

Oxford Brookes departments

Faculty of Health and Life Sciences


Year of publication: 2016
Date of RADAR deposit: 2016-08-11

Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License

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This RADAR resource is the Accepted Manuscript of Confirmation of TENM3 Involvement in Autosomal Recessive Colobomatous Microphthalmia


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