The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

ABSTRACT: Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia. Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome cognitive profile, characterized by a better-than-expected auditory rote-memory ability, a relative sparing of language capabilities, and a severe visual-spatial constructive impairment. Atypical deletions in the region have helped to establish genotype-phenotype correlations. So far, however, hardly any deletions affecting only a single gene in the disease region have been described. We

SUBMITTER: Vandeweyer G 

PROVIDER: S-EPMC3370266 | biostudies-literature | 2012 Jun

REPOSITORIES: biostudies-literature