Williams Syndrome and the Elastin Gene in Thai Patients

NICHARA RUANGDARAGANON, M.D.*, NITTAYA KOTCHABHAKDI, M.D.*, CHINTANA TOCHAROENTANAPHOL, Ph.D.**, PONGSAK KHOWSATHIT, M.D.*

Affiliation : * Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok 10400, ** Department of Pathology, Faculty of Medicine, Srinakharinwirot University, Bangkok 10300, Thailand.

AbstractWilliams syndrome (WS) has long been known as a complex disorder of dysmorphic facial features, described as elfin face, mental retardation or learning disability, loquacious per- sonality, and supravalvular aortic stenosis. The etiology is now known to be due to deletion of the elastin gene (ELN) on long arm of chromosome 7. Thai patients were previously reported by clinical diagnosis. This study reports the first two cases of WS with ELN deletion diagnosed by fluorescent in situ hybridization (FISH) technique. Clinically, hyperacusis is a common finding in WS associated with otitis media. Neither of the patients had hyperacusis, but one of them had bilateral sensorineural hearing loss, which to our knowledge, has never been reported.

Keywords : Williams Syndrome, Elastin Gene, Hearing Loss

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