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Periventricular nodular heterotopia and Williams syndrome
Author(s) -
Ferland Russell J.,
Gaitanis John N.,
Apse Kira,
Tantravahi Umadevi,
Walsh Christopher A.,
Sheen Volney L.
Publication year - 2006
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31259
Subject(s) - heterotopia (medicine) , williams syndrome , psychology , medicine , psychoanalysis , pathology , neuroscience , cognition
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. © 2006 Wiley‐Liss, Inc.