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
Titre
FYCO1 mutation hotspot in congenital cataract
Titre de la conférence
ARVO E-Abstract 1723
Auteur(s)
Abouzeid H., Helmy G., El Sada M., Sherif M., Yacoub M.H., Boisset G., Favez T., Schorderet D.F
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.
Création de la notice
24/01/2013 17:43
Dernière modification de la notice
20/08/2019 13:25
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