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. © 2016 Wiley Periodicals, Inc.
CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.|UDEAR, Université de Toulouse, Inserm, UPS, CNRS, Toulouse, France.
Nicolas
N
Chassaing
Birmingham Women's Hospital Clinical Genetics Unit, Birmingham, UK.|School of Life Sciences, Oxford Brookes University, Oxford, UK.
Nicola
N
Ragge
CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.
Julie
J
Plaisancié
CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.
Oliver
O
Patat
CHRU Montpellier, Service de Génétique Médicale, Montpellier, France.
David
D
Geneviève
CHRU Montpellier, Service de Neuropédiatrie, Montpellier, France.
François
F
Rivier
CHRU Montpellier, Service d'Ophtalmologie, Montpellier, France.
Claudie
C
Malrieu-Eliaou
CHRU Montpellier, Maladies Sensorielles Génétiques, Montpellier, France.
Christian
C
Hamel
Génétique Ophtalmologique INSERM U1163, Paris, France.
Josseline
J
Kaplan
CHU Toulouse, Service de Génétique Médicale, Hôpital Purpan, Toulouse, France.|UDEAR, Université de Toulouse, Inserm, UPS, CNRS, Toulouse, France.
Patrick
P
Calvas
D017398:Alternative Splicing / Q000235:genetics; D020739:Brain Diseases, Metabolic, Inborn / Q000235:genetics* / Q000503:physiopathology; D002648:Child; D003103:Coloboma / Q000235:genetics* / Q000503:physiopathology; D003318:Corneal Opacity / Q000235:genetics* / Q000503:physiopathology; D002658:Developmental Disabilities / Q000235:genetics* / Q000503:physiopathology; D020022:Genetic Predisposition to Disease; D006720:Homozygote; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008831:Microcephaly / Q000235:genetics* / Q000503:physiopathology; D008850:Microphthalmos / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*
D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C575832:TENM3 protein, human
ODZ3; TENM3; coloboma; microphthalmia; targeted sequencing