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

Puneeth H. Somashekar, Anju Shukla, Katta M. Girisha

Research output: Contribution to journalArticle

3 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)1-4
Number of pages4
JournalOphthalmic Genetics
DOIs
Publication statusAccepted/In press - 08-04-2017

Fingerprint

Microphthalmos
Exome
Anophthalmos
Mothers
Coloboma
Syndromic 5 Microphthalmia
Parturition
Phenotype
Mutation
Incidence
Genes

All Science Journal Classification (ASJC) codes

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

Cite this

@article{5edd67dde10c4f44a410cf2ca4a0690f,
title = "Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2",
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.",
author = "Somashekar, {Puneeth H.} and Anju Shukla and Girisha, {Katta M.}",
year = "2017",
month = "4",
day = "8",
doi = "10.1080/13816810.2017.1301967",
language = "English",
pages = "1--4",
journal = "Ophthalmic Genetics",
issn = "1381-6810",
publisher = "Informa Healthcare",

}

Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2. / Somashekar, Puneeth H.; Shukla, Anju; Girisha, Katta M.

In: Ophthalmic Genetics, 08.04.2017, p. 1-4.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Intrafamilial variability in syndromic microphthalmia type 5 caused by a novel variation in OTX2

AU - Somashekar, Puneeth H.

AU - Shukla, Anju

AU - Girisha, Katta M.

PY - 2017/4/8

Y1 - 2017/4/8

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=85017175058&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85017175058&partnerID=8YFLogxK

U2 - 10.1080/13816810.2017.1301967

DO - 10.1080/13816810.2017.1301967

M3 - Article

SP - 1

EP - 4

JO - Ophthalmic Genetics

JF - Ophthalmic Genetics

SN - 1381-6810

ER -