FYCO1 mutation hotspot in congenital cataract
Détails
ID Serval
serval:BIB_041DE4B0E96D
Type
Actes de conférence (partie): contribution originale à la littérature scientifique, publiée à l'occasion de conférences scientifiques, dans un ouvrage de compte-rendu (proceedings), ou dans l'édition spéciale d'un journal reconnu (conference proceedings).
Sous-type
Abstract (résumé de présentation): article court qui reprend les éléments essentiels présentés à l'occasion d'une conférence scientifique dans un poster ou lors d'une intervention orale.
Collection
Publications
Institution
Titre
FYCO1 mutation hotspot in congenital cataract
Titre de la conférence
ARVO E-Abstract 1723
Organisation
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.
Création de la notice
24/01/2013 16:43
Dernière modification de la notice
20/08/2019 12:25
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