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3. Confirmation of TENM3 Involvement in Autosomal Recessive Colobomatous Microphthalmia

Author

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

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.

Published
2016

6. Confirmation of TENM3 involvement in autosomal recessive colobomatous microphthalmia.

Author

Chassaing N, Ragge N, Plaisancié J, Patat O, Geneviève D, Rivier F, Malrieu-Eliaou C, Hamel C, Kaplan J, and Calvas P

Subjects
Alternative Splicing genetics, Brain Diseases, Metabolic, Inborn physiopathology, Child, Coloboma physiopathology, Corneal Opacity physiopathology, Developmental Disabilities physiopathology, Homozygote, Humans, Intellectual Disability physiopathology, Male, Microcephaly physiopathology, Microphthalmos physiopathology, Mutation, Brain Diseases, Metabolic, Inborn genetics, Coloboma genetics, Corneal Opacity genetics, Developmental Disabilities genetics, Genetic Predisposition to Disease, Intellectual Disability genetics, Membrane Proteins genetics, Microcephaly genetics, Microphthalmos genetics, Nerve Tissue Proteins genetics
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., (© 2016 Wiley Periodicals, Inc.)

Published
2016
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