Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 7, Pages 1895-1898Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37667
Keywords
coloboma; microphthalmia; TENM3; ODZ3; targeted sequencing
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Funding
- French Ministry of Health [PHRC 09 109 01]
- Fondation Maladies Rare
- Retina France patient association
- VICTA (Visually Impaired Children Taking Action)
- MACS (Microphthalmia, Anophthalmia Children's Society)
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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. (C) 2016 Wiley Periodicals, Inc.
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