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.
Copyright 2006 Wiley-Liss, Inc.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Cerebral Ventricles / pathology*
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Cerebral Ventriculography
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Child
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Chromosomes, Human, Pair 7
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Contractile Proteins / genetics*
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Elastin / genetics
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Female
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Filamins
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Gene Deletion
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Genes, X-Linked
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Genetic Markers
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Humans
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In Situ Hybridization, Fluorescence
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Karyotyping
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Loss of Heterozygosity
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Microfilament Proteins / genetics*
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Microsatellite Repeats / genetics
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Mutation
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Physical Chromosome Mapping
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Polymorphism, Single Nucleotide
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Sequence Analysis, DNA
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Syndrome
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Williams Syndrome / genetics*
Substances
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Contractile Proteins
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Filamins
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Genetic Markers
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Microfilament Proteins
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Elastin