title: A homozygous deletion of 8q24.3 including the NIBP gene associated with severe developmental delay, dysgenesis of the corpus callosum, and dysmorphic facial features.
abstract: 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.
authors.affiliation: Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Arie
authors.initials: A
authors.lastname: Koifman
authors.forename: Annette
authors.initials: A
authors.lastname: Feigenbaum
authors.forename: Weimin
authors.initials: W
authors.lastname: Bi
authors.forename: Lisa G
authors.initials: LG
authors.lastname: Shaffer
authors.forename: Jill
authors.initials: J
authors.lastname: Rosenfeld
authors.forename: Susan
authors.initials: S
authors.lastname: Blaser
authors.forename: David
authors.initials: D
authors.lastname: Chitayat
mesh_terms: D000328:Adult; D061085:Agenesis of Corpus Callosum; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D002658:Developmental Disabilities / Q000150:complications / Q000235:genetics*; D005145:Face / Q000002:abnormalities*; D019066:Facies; D005260:Female; D006720:Homozygote; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D036341:Intercellular Signaling Peptides and Proteins; D008279:Magnetic Resonance Imaging; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D011247:Pregnancy
chemical_list: D002352:Carrier Proteins; D036341:Intercellular Signaling Peptides and Proteins; C503887:TRAPPC9 protein, human