Mutation analysis of the STRA6 gene in isolated and non‐isolated anophthalmia/microphthalmia. (4th July 2012)

• Record Type: Journal Article
• Authors: Chassaing, N; Ragge, N; Kariminejad, A; Buffet, A; Ghaderi‐Sohi, S; Martinovic, J; Calvas, P
• Is Part Of: Clinical genetics. Volume 83:Number 3(2013:Mar.)
• Page Start: 244
• Page End: 250
• Publication Date: 2012-07-04
• Subjects: Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/j.1399-0004.2012.01904.x
• Languages: English
• ISSNs: 0009-9163

Abstract

<abstract abstract-type="main"> <title> <x xml:space="preserve">Abstract</x> </title> <p>PDAC syndrome [Pulmonary hypoplasia/agenesis, Diaphragmatic hernia/eventration, Anophthalmia/microphthalmia (A/M) and Cardiac Defect] is a condition associated with recessive mutations in the <italic>STRA6</italic> gene in some of these patients. Recently, cases with isolated anophthalmia have been associated with <italic>STRA6</italic> mutations. To determine the minimal findings associated with <italic>STRA6</italic> mutations, we performed mutation analysis of the <italic>STRA6</italic> gene in 28 cases with anophthalmia. In 7 of the cases the anophthalmia was isolated, in 14 cases it was associated with one of the major features included in PDAC and 7 had other abnormalities. Mutations were identified in two individuals: one with bilateral anophthalmia and some features included in PDAC, who was a compound heterozygote for a missense mutation and a large intragenic deletion, and the second case with all the major features of PDAC and who had a homozygous splicing mutation. This study suggests that <italic>STRA6</italic> mutations are more likely to be identified in individuals with A/M and other abnormalities included in the PDAC spectrum, rather than in isolated A/M cases.</p> </abstract>