Article
Cytogenetic and molecular characterization of A2BP1/FOX1 as a candidate gene for autism.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics - 5 Oct 2007
Martin Christa Lese, Duvall Jacqueline A, Ilkin Yesim, Simon Jason S, Arreaza M Gladys, Wilkes Kristin, Alvarez-Retuerto Ana, Whichello Amy, Powell Cynthia M, Rao Kathleen, Cook Edwin, Geschwind Daniel H
Abstract excerpt
Cytogenetic imbalances are increasingly being realized as causes of autism. Here, we report a de novo translocation between the short arms of chromosomes 15 and 16 in a female with autism, epilepsy, and global developmental delay. FISH analysis identified a cryptic deletion of approximately 160 kb at the boundary of the first exon and first intron of the 1.7 Mb ataxin-2 binding protein-1 (A2BP1) gene, also called...
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