Williams-Beuren Syndrome (WBS) is a rare neurodevelopmental disorder caused by a deletion (approximately 1.5-1.8Mb in size, containing around 28 genes) within chromosome band 7q11.231. The incidence of this syndrome is estimated at 1 in 7,500 to 20,000 live births2,3,4.
Patients display a distinctive ‘elfin’ facial appearance, connective tissue problems, supravalvular aortic stenosis (SVAS), growth retardation, renal anomalies, transient hypercalcaemia, hyperacusis and mental retardation5. Haploinsufficiency of the elastin (ELN) gene has been identified as being responsible for the SVAS6,7 but none of the other clinical features of the syndrome have been unequivocally attributed to specific genes within the WBS deleted region. These genotype-phenpotype correlations are made more difficult in WBS patients as the deletion has also been shown to have an effect on normal copy number genes that neighbour the deletion breakpoints8.
1. Francke U et al., Hum Mol Genet 1999;8:1947-54
2. Stromme et al., J. Child. Neurol 2002;17:269-71
3. OMIM ♯194050. www.omim.org/194050
4. Schubert C. Cell Mol Life Sci 2009; 66(7):1178-97
5. Pober BR, Dykens EM, Child Adolesc Psychiatr Clin North Am 1996;5:929-43
6. Ewart et al., Nat Genet 1993; 5(1):11-16
7. Tassabehji M et al., Hum Mol Genet 1997;6:1029-36
8. Merla et al., Am J Hum Genet 2006; 79:332-341
This product is intended to be used on Carnoy’s solution (3:1 methanol/acetic acid) fixed peripheral blood samples.