An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.

Détails

ID Serval
serval:BIB_0141A423D0A6
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Institution
Titre
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
Périodique
European Journal of Human Genetics
Auteur⸱e⸱s
Ferrero G.B., Howald C., Micale L., Biamino E., Augello B., Fusco C., Turturo M.G., Forzano S., Reymond A., Merla G.
ISSN
1476-5438[electronic], 1018-4813[linking]
Statut éditorial
Publié
Date de publication
2010
Peer-reviewed
Oui
Volume
18
Numéro
1
Pages
33-38
Langue
anglais
Résumé
Williams-Beuren syndrome (WBS; OMIM no. 194050) is a multisystemic neurodevelopmental disorder caused by a hemizygous deletion of 1.55 Mb on chromosome 7q11.23 spanning 28 genes. Haploinsufficiency of the ELN gene was shown to be responsible for supravalvular aortic stenosis and generalized arteriopathy, whereas LIMK1, CLIP2, GTF2IRD1 and GTF2I genes were suggested to be linked to the specific cognitive profile and craniofacial features. These insights for genotype-phenotype correlations came from the molecular and clinical analysis of patients with atypical deletions and mice models. Here we report a patient showing mild WBS physical phenotype and normal IQ, who carries a shorter 1 Mb atypical deletion. This rearrangement does not include the GTF2IRD1 and GTF2I genes and only partially the BAZ1B gene. Our results are consistent with the hypothesis that hemizygosity of the GTF2IRD1 and GTF2I genes might be involved in the facial dysmorphisms and in the specific motor and cognitive deficits observed in WBS patients.
Mots-clé
Adult, Child, Chromosome Deletion, Cognition, Female, Genome, Human/genetics, Humans, In Situ Hybridization, Fluorescence, Infant, Infant, Newborn, Intelligence Tests, Male, Phenotype, Polymerase Chain Reaction, Pregnancy, Williams Syndrome/genetics
Pubmed
Web of science
Open Access
Oui
Création de la notice
26/01/2010 13:43
Dernière modification de la notice
20/08/2019 12:23
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