An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient.
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.
Ferrero
Giovanni Battista
GB
Department of Pediatrics, University of Torino, Torino, Italy.
Howald
Cédric
C
Micale
Lucia
L
Biamino
Elisa
E
Augello
Bartolomeo
B
Fusco
Carmela
C
Turturo
Maria Giuseppina
MG
Forzano
Serena
S
Reymond
Alexandre
A
Merla
Giuseppe
G
D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D003071:Cognition; D005260:Female; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007231:Infant, Newborn; D007361:Intelligence Tests; D008297:Male; D010641:Phenotype; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D018980:Williams Syndrome / Q000235:genetics*