Parent-of-origin effects in SOX2 anophthalmia syndrome.

ABSTRACT:

Purpose

Sex determining region Y (SRY)-box 2 (SOX2) anophthalmia syndrome is an autosomal dominant disorder manifesting as severe developmental eye malformations associated with brain, esophageal, genital, and kidney abnormalities. The syndrome is usually caused by de novo mutations or deletions in the transcription factor SOX2. To investigate any potential parental susceptibility factors, we set out to determine the parent of origin of the mutations or deletions, and following this, to determine if birth order or parental age were significant factors, as well as whether mutation susceptibility was related to any sequence variants in cis with the mutant allele.

Methods

We analyzed 23 cases of de novo disease to determine the parental origin of SOX2 mutations and deletions us

SUBMITTER: Osborne RJ 

PROVIDER: S-EPMC3236070 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature