title: Williams-Beuren syndrome with brain malformation and hypertrophic cardiomyopathy.
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.
authors.affiliation: Department of Pediatrics, Jichi Medical University, Japan.
authors.forename: Noriko
authors.initials: N
authors.lastname: Okamoto
authors.affiliation: Department of Pediatrics, Jichi Medical University, Japan. Electronic address: takanori@jichi.ac.jp.
authors.forename: Takanori
authors.initials: T
authors.lastname: Yamagata
authors.affiliation: Department of Pediatrics, Jichi Medical University, Japan.
authors.forename: Yukari
authors.initials: Y
authors.lastname: Yada
authors.affiliation: Department of Pediatrics, Jichi Medical University, Japan.
authors.forename: Ko
authors.initials: K
authors.lastname: Ichihashi
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
authors.forename: Naomichi
authors.initials: N
authors.lastname: Matsumoto
authors.affiliation: Department of Pediatrics, Jichi Medical University, Japan.
authors.forename: Mariko Y
authors.initials: MY
authors.lastname: Momoi
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Mizuguchi
mesh_terms: D001921:Brain / Q000002:abnormalities* / Q000473:pathology; D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000503:physiopathology*; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7; D055028:Comparative Genomic Hybridization; D004452:Echocardiography; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D046228:Microarray Analysis; D014057:Tomography, X-Ray Computed; D018980:Williams Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology
keywords: Cerebral and cerebellar dysplasia; Hypertrophic cardiomyopathy; Microarray comparative genomic hybridization analysis (aCGH); Williams syndrome