| Abstract |
的外显率精神分裂症ophreniarisk in carriers of the 22q11.2 deletion is high but incomplete, suggesting the possibility of additional genetic defects. We performed whole exome sequencing on two individuals with 22q11.2 deletion, one with精神分裂症ophreniaand the other who was psychosis-free. The results revealed novel genetic variants related to neuronal function exclusively in the person with精神分裂症ophrenia(frameshift: KAT8,APOHand SNX31; nonsense: EFCAB11 and CLVS2). This study paves the way towards a more complete understanding of variant dose and genetic architecture in精神分裂症ophrenia. |