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Variation in GABA‐A subunit gene copy number in an autistic patient with mosaic 4 p duplication (p12p16)
Author(s) -
Kakinuma Hiroaki,
Ozaki Mamoru,
Sato Hitoshi,
Takahashi Hiroaki
Publication year - 2008
Publication title -
american journal of medical genetics part b: neuropsychiatric genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.393
H-Index - 126
eISSN - 1552-485X
pISSN - 1552-4841
DOI - 10.1002/ajmg.b.30663
Subject(s) - gene duplication , copy number variation , autism , fluorescence in situ hybridization , genetics , dup , biology , chromosome , gene , etiology , medicine , genome , pathology , psychiatry
Autism has been associated with chromosomal aberrations, including duplications at chromosome 4, and the identification of genetic factors contributing to the etiology of this disease is the focus of much research. Here we report a Japanese girl with mosaic of chromosome 4p duplication, mos 46,XX,dup(4)(p12p16)[54]/46,XX[6], who was diagnosed with autism at 3 years of age. Fluorescence in situ hybridization (FISH) with probes covering the region spanning a cluster of the gamma aminobutyric acid A (GABA‐A) receptor subunit genes in the proximal short arm of chromosome 4 demonstrated total three signals for the GABRG1 , GABRA4 , and GABRA2 genes, but only two signals for GABRB1 . This suggests that aberrant copy number of the GABA‐A receptor subunit genes may contribute to the etiology of autism in this patient. © 2007 Wiley‐Liss, Inc.