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Pulmonary function and emphysema in Williams–Beuren syndrome
Author(s) -
Wan Emily S.,
Pober Barbara R.,
Washko George R.,
Raby Benjamin A.,
Silverman Edwin K.
Publication year - 2010
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.33300
Subject(s) - elastin , pathogenesis , copd , medicine , subclinical infection , lung , obstructive lung disease , disease , locus (genetics) , pathology , respiratory system , pulmonary function testing , cardiology , gene , biology , genetics
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. © 2010 Wiley‐Liss, Inc.