Pathophysilogy of brain dysfunction in Angelman and Prader-Willi syndrome.

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To uncover the pathophysiology underlying brain dysfunction in Angelman syndrome(AS) and Prader-Willi syndrome(PWS), we performed comprehensive genetic analyses on 168 patients with AS and 202 patients with PWS. We identified causative molecular abnormalities in 54 patients(32.1%) for AS and 82 patients(40.6%) for PWS. Furthermore, we identified one patients with a SLC9A6 mutation 2 patients with submicroscopic chromosomal rearrangements in AS, and 22 patients with submicroscopic chromosomal rearrangements in PWS. These underlying molecular abnormalities should indicate common pathway to cause brain dysfunction in AS and in PWS.