FYCO1 Mutation Hotspot in Congenital Cataract

Abstract

Purpose: : To report on the molecular origin of congenital cataract in an Egyptian family.

Methods: : We performed a genome-wide SNPs array analysis in a consanguineous family of Egyptian origin with two affected and one unaffected children with congenital cataract. Systemic and ophthalmic examinations were performed.

Results: : The two affected patients, a 3month old boy and a 7 year old girl with cataract and nystagmus were studied. Lensectomy was performed on both patients with IOL implantation in the older patient. A homozygous region of 12Mb on chromosome 3 was identified. This region contained the previously reported FYCO1 gene. Molecular analysis revealed a homozygous c.2206C>T mutation (p.Gln736X) in the affected patients. SNP analysis around the gene indicated that the mutation arose on a different genetic background than that reported by Chen et al. (AJHG 2011).

Conclusions: : Mutations in FYCO1 are also present in the Egyptian population. We have shown that it developed de novo in this family thus indicating that this nucleotide is a hotspot for mutation and does not represent a founder effect.

Keywords: cataract • genetics