Search

Williams-Beuren syndrome (WBS) is caused by a submicroscopic deletion on chromosome 7q11.23 that encompasses the entire elastin (ELN) gene. Elastin, a key component of elastic fibers within the lung, is progressively destroyed in emphysema. Defects in the elastin gene have been associated with increased susceptibility towards developing chronic obstructive pulmonary disease (COPD) and emphysema in both humans and mice. We postulate that hemizygosity at the elastin gene locus may increase susceptibility towards the development of COPD and emphysema in subjects with WBS. We describe an adult subject with WBS who was a lifelong non-smoker and was found to have moderate emphysema. We also examined the pulmonary function of a separate cohort of adolescents and young adults with WBS. Although no significant spirometric abnormalities were identified, a significant proportion of subjects reported respiratory symptoms. Thus, while significant obstructive disease does not appear to be common in relatively young adults with WBS, subclinical emphysema and lung disease may exist which possibly could worsen with advancing age. Further investigation may elucidate the pathogenesis of non-smoking-related emphysema., ((c) 2010 Wiley-Liss, Inc.)

Williams syndrome (WS) is due to a deletion in the WS critical region at 7q11.23 which includes the elastin gene (ELN). One of the most characteristic features of this disorder is a harsh, brassy, or hoarse voice but the etiology of the vocal characteristics are unknown. We report two patients with WS who had bilateral vocal cord abnormalities, bringing to four the number of children with WS in whom such defects have been documented. We suggest that vocal cord abnormalities may be a far more common feature of WS than has been previously suspected, and that mild vocal cord dysfunction caused by abnormal vocal cord elastin may be the cause of the hoarse voice in this condition., (Copyright 2003 Wiley-Liss, Inc.)