Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia. Issue 7 (22nd April 2016)

• Record Type: Journal Article
• Authors: Chassaing, Nicolas; Ragge, Nicola; Plaisancié, Julie; Patat, Oliver; Geneviève, David; Rivier, François; Malrieu‐Eliaou, Claudie; Hamel, Christian; Kaplan, Josseline; Calvas, Patrick
• Is Part Of: American journal of medical genetics. Volume 170:Issue 7(2016)
• Page Start: 1895
• Page End: 1898
• Publication Date: 2016-04-22
• Subjects: coloboma -- microphthalmia -- TENM3 -- ODZ3 -- targeted sequencing; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37667
• Languages: English
• ISSNs: 1552-4825

Abstract

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.