Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2

Puneeth, H and Somashekar, * and Shukla, Anju and Girisha, KM (2017) Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. Ophthalmic Genetics. pp. 1-4. ISSN 1381-6810

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Abstract

Background: Anophthalmia/microphthalmia/coloboma (MAC) spectrum encompasses the most severe malformations of the eye. Together, they have an incidence of 2 in 10,000 births and can be unilateral or bilateral. These disorders are genetically heterogeneous. Materials and methods: We ascertained a large three-generation family with multiple members showing variable phenotypes of syndromic microphthalmia. Exome sequencing was performed for the proband and his affected maternal aunt. Targeted sequencing of OTX2 gene was performed for other family members. Result: Variable clinical presentation in the form of unilateral microphthalmia and bilateral microphthalmia as well as nonpenetrance were noted. Exome sequencing revealed a novel heterozygous variant c.278G>T (p.W93L) in OTX2 in the proband. All affected members as well as the unaffected mother of the proband carried the same variant. Conclusion: Syndromic microphthalmia due to mutations in OTX2 can present with significant intrafamilial phenotypic variability.

Item Type: Article
Uncontrolled Keywords: Anophthalmia; bilateral clinodactyly; microphthalmia; optic nerve hypoplasia; OTX2 gene
Subjects: Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Library
Date Deposited: 04 Jul 2017 09:10
Last Modified: 04 Jul 2017 09:10
URI: http://eprints.manipal.edu/id/eprint/149258

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