2. Academic Validation
  3. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia

  • Am J Med Genet A. 2016 Jul;170(7):1895-8. doi: 10.1002/ajmg.a.37667.
Nicolas Chassaing 1 2,  Nicola Ragge 3 4,  Julie Plaisancié 1,  Oliver Patat 1,  David Geneviève 5,  François Rivier 6,  Claudie Malrieu-Eliaou 7,  Christian Hamel 8,  Josseline Kaplan 9,  Patrick Calvas 1 2
Affiliations

Affiliations

  • 1 CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.
  • 2 UDEAR, Université de Toulouse, Inserm, UPS, CNRS, Toulouse, France.
  • 3 Birmingham Women's Hospital Clinical Genetics Unit, Birmingham, UK.
  • 4 School of Life Sciences, Oxford Brookes University, Oxford, UK.
  • 5 CHRU Montpellier, Service de Génétique Médicale, Montpellier, France.
  • 6 CHRU Montpellier, Service de Neuropédiatrie, Montpellier, France.
  • 7 CHRU Montpellier, Service d'Ophtalmologie, Montpellier, France.
  • 8 CHRU Montpellier, Maladies Sensorielles Génétiques, Montpellier, France.
  • 9 Génétique Ophtalmologique INSERM U1163, Paris, France.
PMID: 27103084 DOI: 10.1002/ajmg.a.37667
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.

Keywords

ODZ3; TENM3; coloboma; microphthalmia; targeted sequencing.

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