TY - JOUR
T1 - 22q11.2 deletion carriers and schizophreniaassociated novel variants
AU - Balan, S.
AU - Iwayama, Y.
AU - Toyota, T.
AU - Toyoshima, M.
AU - Maekawa, M.
AU - Yoshikawa, T.
PY - 2014/5
Y1 - 2014/5
N2 - The penetrance of schizophrenia risk 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 schizophrenia and the other who was psychosisfree. The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). This study paves the way towards a more complete understanding of variant dose and genetic architecture in schizophrenia.
AB - The penetrance of schizophrenia risk 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 schizophrenia and the other who was psychosisfree. The results revealed novel genetic variants related to neuronal function exclusively in the person with schizophrenia (frameshift: KAT8, APOH and SNX31; nonsense: EFCAB11 and CLVS2). This study paves the way towards a more complete understanding of variant dose and genetic architecture in schizophrenia.
UR - http://www.scopus.com/inward/record.url?scp=84899717370&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84899717370&partnerID=8YFLogxK
U2 - 10.1192/bjp.bp.113.138420
DO - 10.1192/bjp.bp.113.138420
M3 - Article
C2 - 24482440
AN - SCOPUS:84899717370
SN - 0007-1250
VL - 204
SP - 398
EP - 399
JO - The Journal of mental science
JF - The Journal of mental science
IS - 5
ER -
