ANALYSIS OF THE ELASTIN GENE IN 60 PATIENTS WITH CLINICAL-DIAGNOSIS OF WILLIAMS-SYNDROME

Williams syndrome (WS) is caused by deletion of the elastin (ELN) gene . We have analyzed an intragenic restriction fragment length polymorph ism (RFLP) and the gene dosage of ELN using a new probe (FP4) in a ser ies of 60 sporadic patients with a clinical diagnosis of WS. Deletion of the ELN gene was shown in 54 cases, while clinical revaluation of t he 6 patients without the deletion did not confirm the diagnosis of WS . These results support the genetic homogeneity of WS, and the high ac curacy of ELN molecular analysis, which can be confidenty used for pro viding genetic counselling to WS families.