Purchase this article with an account.
Hana Abouzeid, Gihan Helmy, Mohamed El Sada, Mai Sherif, Mariam H. Yacoub, Gaelle Boisset, Tatiana Favez, Daniel F. Schorderet; FYCO1 Mutation Hotspot in Congenital Cataract. Invest. Ophthalmol. Vis. Sci. 2012;53(14):1723.
Download citation file:
© ARVO (1962-2015); The Authors (2016-present)
To report on the molecular origin of congenital cataract in an Egyptian family.
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.
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).
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.
This PDF is available to Subscribers Only