A 12 Mb deletion at 7q33–q35 associated with autism spectrum disorders and primary amenorrhea
E Rossi, AP Verri, MG Patricelli, V Destefani… - European Journal of …, 2008 - Elsevier
An interstitial deletion of about 12Mb 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 …
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 …
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