identification of candidate genes responsible for an autism patient with pericentric inversion in chromosome 2.

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This study investigated one of the candidate genes associated with autism based on genomic analyses of an autistic patient with mild mental retardation (IQ 80) and a pericentric inversion at chromosome 2 (2p11/2q13). We speculated that the breaking point of 2p11 and/or 2q13 might be responsible for the condition in this patient and further analyzed each breaking point by FISH analysis.We analyzed genomic DNA from the patient by FISH using more than 40 RPMI-BAC clones. Thirty BAC clones were useful for this study. Finally we narrowed the 2p11 breaking point to a site between two BAC clones, RP11-81F3 and RP11-50B16. The distance between two clones was about 1.2 Mb. However, the 2p13 breaking point was limited to about 0.5 Mb between RP11-68E19 and RP11-592G13. Then, we tried to further limit the breaking area by FISH, but the nucleotide sequences of both regions were too similar to analyze successfully. The latter region contained two genes, ANAPC1 and MERTK. We examined these genes by RT-PCR and Southern blot analysis, but there were no detectable abnormalities. These findings suggest that there were no breaking points in the genes, ANAPC1 and MERTK..Recently, a newly revised physical map of the region around 2p11 has been demonstrated. There are 14 genes in this region. Most of these genes are not yet known currently, but there are two genes known as RGPD2 and FGPD4. We consider these genes candidates and are analyzing them.