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A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features
Author(s) -
Koifman Arie,
Feigenbaum Annette,
Bi Weimin,
Shaffer Lisa G.,
Rosenfeld Jill,
Blaser Susan,
Chitayat David
Publication year - 2010
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.33319
Subject(s) - dysgenesis , genetics , biology , comparative genomic hybridization , gene , corpus callosum , phenotype , mutation , gene dosage , gene expression , genome , anatomy
We have identified by microarray‐based comparative genomic hybridization analysis (aCGH), a homozygous deletion of 8q24.3 [arr cgh 8q24.3(140,879,937 → 141,021,392)x0 mat pat] in a patient with dysmorphic facial features, dysgenesis of the corpus callosum, and severe mental retardation. The deletion was inherited from asymptomatic, consanguineous parents, each of them being heterozygous for the same deletion. The only gene known to map to this segment is the NIBP gene, and so far no clinical manifestations have been found in association with this gene mutation in homozygous or heterozygous state in humans. Our findings suggest that a homozygous deletion in the NIBP gene results in an autosomal recessive condition with multiple abnormalities and severe delay. In addition, the child inherited a 781‐kb deletion on 4q32.2 from the mother that contains the SPOCK3 gene. We suggest that this heterozygous deletion is likely to be non‐contributory to the phenotype. © 2010 Wiley‐Liss, Inc.