Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online

Détails

ID Serval
serval:BIB_AD4E68E74EA3
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
Identification of novel PAX6 mutations in two families with bilateral aniridia. Mutations in brief no. 167. Online
Périodique
Human Mutation
Auteur(s)
Neuner-Jehle  M., Munier  F., Kobetz  A., Sahly  I., Uteza  Y., Mermoud  A., Schorderet  D. F., Dufier  J. L., Abitbol  M.
ISSN
1059-7794 (Print)
Statut éditorial
Publié
Date de publication
1998
Volume
12
Numéro
2
Pages
138
Notes
Journal Article
Research Support, Non-U.S. Gov't
Résumé
We report two novel PAX6 mutations in aniridia patients of two Swiss pedigrees (We, Sc) which give rise to different phenotypes. An SSCP analysis of the PAX6 14 exons reveals electrophoretic mobility shifts exclusively in exons 5 and 12 of aniridia patients. As determined by bidirectional sequencing and restriction digest analysis, these shifts are caused by mono-allelic base transitions in exon 5 (c.547C-->T; R44X; We) and intron 12 (IVS12+5G-->A; Sc). Each mutation co-segregates with the trait in the affected family with complete penetrance. The Sc mutation in the splicing donor site of intron 12 may result in either intron inclusion or exon skipping, both giving rise to a truncated PAX6 protein which may retain a residual transactivating activity. In contrast, the We genetic alteration is a loss-of-function mutation leading to a more severe phenotype than that observed in the Sc pedigree.
Mots-clé
Alternative Splicing Aniridia/*genetics DNA-Binding Proteins/*genetics Eye Proteins *Homeodomain Proteins Humans Introns/genetics Mutation/*genetics Paired Box Transcription Factors Pedigree Repressor Proteins
Pubmed
Création de la notice
28/01/2008 12:49
Dernière modification de la notice
20/08/2019 15:17
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