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 language | English |
|---|---|
| Pages (from-to) | 1-4 |
| Number of pages | 4 |
| Journal | Ophthalmic Genetics |
| DOIs | |
| Publication status | Accepted/In press - 08-04-2017 |
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All Science Journal Classification (ASJC) codes
- Pediatrics, Perinatology, and Child Health
- Ophthalmology
- Genetics(clinical)
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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 journal › Article
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.
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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 -