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Brain Dev. 2014 Jun;36(6):523-7. doi: 10.1016/j.braindev.2013.07.002. Epub 2013 Jul 27.

Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy.

Author information

  • 1Department of Pediatrics, Jichi Medical University, Japan.
  • 2Department of Pediatrics, Jichi Medical University, Japan. Electronic address: takanori@jichi.ac.jp.
  • 3Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.

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.

Copyright © 2013 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

KEYWORDS:

Cerebral and cerebellar dysplasia; Hypertrophic cardiomyopathy; Microarray comparative genomic hybridization analysis (aCGH); Williams syndrome

PMID:
23899771
[PubMed - in process]
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