Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3036961 | Brain and Development | 2014 | 5 Pages |
Abstract
Williams–Beuren syndrome (WBS) is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. We report a severely affected WBS patient with cerebral and cerebellar dysplasia as well as hypertrophic cardiomyopathy. Microarray comparative genomic hybridization (aCGH) detected a deletion on 7q11.23 expanding from RP11-614D7 to RP11-137E8, which is a typical deletion in WBS. To the best of our knowledge, this is the first case report of a WBS patient with severe congenital central nervous system anomaly and progressive hypertrophic cardiomyopathy. The relationship between the genes deleted in WBS and a CNS anomaly plus hypertrophic cardiomyopathy requires further analysis.
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Authors
Noriko Okamoto, Takanori Yamagata, Yukari Yada, Ko Ichihashi, Naomichi Matsumoto, Mariko Y. Momoi, Takeshi Mizuguchi,