Williams-Beuren LPU011 - Detail

Williams-Beuren Syndrome (WBS) is a developmental disorder caused by a microdeletion of 7q11.23¹. Patients display connective tissue problems, typically supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation². Haploinsufficiency of the elastin (ELN) gene has been identified as responsible for SVAS^3,4 however, of the remaining 15 genes identified within the WBS deletion none of the remaining clinical features have been conclusively attributed to any one of these genes.

The most recent work maps the WBS deletion region to be 1.6 Mb⁵ and flanked by highly homologous duplicons of 320-500 kb within which the common breakpoints cluster. The common WBS deletion results from non-homologous recombination between the GTF2I/NCF1 locus and the GTF2IP1/NCF1P1 locus or rare intrachromosomal exchange between the centromeric GTF2IP2/NCF1 and the telomeric GT2IP2/NCF1P2 duplicons.

Reference:/Bibliographie/Literatur/Bibliografia

1. Francke U et al (1999) Hum Mol Genet 8: 1947-1954
2. Prober BR and Dykens EM (1996) Child Adolesc Psychiatr Clin North Am 5: 929-943
3. Li DY et al (1997) Hum Mol Genet 6: 1021-1028
4. Tassabehji M et al (1997) Hum Mol Genet 6: 1029-1036
5. Peoples R et al (2000) Am J Hum Genet 66: 47-68