Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family

Détails

Ressource 1Télécharger: BIB_FB7AC5A6622F.P001.pdf (518.74 [Ko])
Etat: Public
Version: Final published version
ID Serval
serval:BIB_FB7AC5A6622F
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family
Périodique
Journal of Clinical & Experimental Ophthalmology
Auteur(s)
Jakobsson Cecilia, Youssef Mohamed A, Marzouk Iman, ElShakankiri Nihal, Nader Bayoumi, Munier Francis L., Schorderet Daniel F, Abouzeid Hana
ISSN
2155-9570
ISSN-L
2155-9570
Statut éditorial
Publié
Date de publication
05/2015
Peer-reviewed
Oui
Volume
6
Numéro
3
Pages
441
Langue
anglais
Résumé
Purpose: To report the clinical and genetic study of a child with bilateral anophthalmia.
Methods: A 14-year-old Egyptian boy, born from consanguineous parents, underwent a general and a full ophthalmological examination. Mutation screen of the A/M genes with recessive inheritance was done stepwise and DNA was analyzed by Sanger sequencing.
Results: Bilateral anophthalmia, arachnodactyly of the feet and high arched palate were observed on general examination. The parents were first cousins and healthy. Sequencing analysis revealed a novel compound heterozygous mutation in one of the copy of exon 2 of VSX2 and a possible deletion of at least exon 2 on the other allele.
Conclusions: A compound heterozygous VSX2 mutation associated with anophthalmia was identified in a patient from an Egyptian consanguineous family. This report brings the number of VSX2 mutation in anophthalmia/microphthalmia (A/M) to 13. Functional consequences of the reported changes still need to be characterized, as well as the percentage of A/M caused by mutations in the VSX2 gene. This family also shows that despite consanguinity, heterozygous mutations can also happen and one should not restrict the molecular analysis to homozygous mutations.
Open Access
Oui
Création de la notice
03/02/2016 14:33
Dernière modification de la notice
20/08/2019 16:26
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