A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea

Abstract An interstitial deletion of about 12 Mb at 7q33–q36 was found in an adult female affected by autism and primary amenorrhea. Two genes, CNTNAP2 and NOBOX , both contained within the deletion region, have been recently associated with autism susceptibility and premature ovarian failure, respectively. Our findings reinforce the hypothesis that haploinsufficiency of both these genes is sufficient for autism development and occurrence of primary amenorrhea, confirming a previous case in which CNTNAP2 had been disrupted by a chromosome inversion and possibly enlarging the phenotype of ovarian function disturbances already demonstrated for NOBOX mutations.