title: Periventricular nodular heterotopia and Williams syndrome.
abstract: We report here on the first case of a child with bilateral periventricular nodular heterotopia (PNH) and Williams syndrome. Fluorescent in situ hybridization (FISH) analyses demonstrated a deletion of the elastin gene in the Williams syndrome critical region (WSCR). Further mapping by loss of heterozygosity analysis both by microsatellite marker and SNP profiling demonstrated a 1.5 Mb deletion beyond the telomeric end of the typical WSCR. No mutations were identified in the X-linked filamin-A gene (the most common cause of PNH). These findings suggest another dominant PNH disorder along chromosome 7q11.23.
authors.affiliation: Department of Biology, Rensselaer Polytechnic Institute, Center for Biotechnology and Interdisciplinary Studies, Troy, New York, USA.
authors.forename: Russell J
authors.initials: RJ
authors.lastname: Ferland
authors.forename: John N
authors.initials: JN
authors.lastname: Gaitanis
authors.forename: Kira
authors.initials: K
authors.lastname: Apse
authors.forename: Umadevi
authors.initials: U
authors.lastname: Tantravahi
authors.forename: Christopher A
authors.initials: CA
authors.lastname: Walsh
authors.forename: Volney L
authors.initials: VL
authors.lastname: Sheen
mesh_terms: D002552:Cerebral Ventricles / Q000473:pathology*; D014695:Cerebral Ventriculography; D002648:Child; D002897:Chromosomes, Human, Pair 7; D003285:Contractile Proteins / Q000235:genetics*; D004549:Elastin / Q000235:genetics; D005260:Female; D064448:Filamins; D017353:Gene Deletion; D050172:Genes, X-Linked; D005819:Genetic Markers; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D019656:Loss of Heterozygosity; D008840:Microfilament Proteins / Q000235:genetics*; D018895:Microsatellite Repeats / Q000235:genetics; D009154:Mutation; D020161:Physical Chromosome Mapping; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013577:Syndrome; D018980:Williams Syndrome / Q000235:genetics*
chemical_list: D003285:Contractile Proteins; D064448:Filamins; D005819:Genetic Markers; D008840:Microfilament Proteins; D004549:Elastin