Titre
FYCO1 mutation hotspot in congenital cataract
Type
abstract de conférence/colloque
Institution
Externe
Auteur(s)
Abouzeid, H.
Auteure/Auteur
Helmy, G.
Auteure/Auteur
El Sada, M.
Auteure/Auteur
Sherif, M.
Auteure/Auteur
Yacoub, M.H.
Auteure/Auteur
Boisset, G.
Auteure/Auteur
Favez, T.
Auteure/Auteur
Schorderet, D.F
Auteure/Auteur
Liens vers les personnes
Titre du livre ou conférence/colloque
ARVO E-Abstract 1723
Unité
Association for Research in Vision and Ophthalmology
Adresse
Fort Lauderdale
Statut éditorial
Publié
Date de publication
2012
Peer-reviewed
Oui
Langue
anglais
Résumé
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.
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.
PID Serval
serval:BIB_041DE4B0E96D
Date de création
2013-01-24T15:43:48.553Z
Date de création dans IRIS
2025-05-20T19:29:18Z