22q11. 2 deletion carriers and schizophrenia-associated novel variants
S Balan, Y Iwayama, T Toyota, M Toyoshima… - The British Journal of …, 2014 - cambridge.org
S Balan, Y Iwayama, T Toyota, M Toyoshima, M Maekawa, T Yoshikawa
The British Journal of Psychiatry, 2014•cambridge.orgThe 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 …
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 …
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.
Cambridge University Press