Identification of rare variants in KCTD13 at the schizophrenia risk locus 16p11.2

Duplications in 16p11.2 are a risk factor for schizophrenia

(SCZ). Using genetically modified zebrafish, Golzio and

colleagues identified KCTD13 within 16p11.2 as a major

driver of the neuropsychiatric phenotype observed in

humans. The aims of the present study were to explore the

role of KCTD13 in the development of SCZ and to provide a

more complete picture of the allelic architecture at this risk

locus. The exons of KCTD13 were sequenced in 576

patients. The mutations c.6G>T and c.598G>A were

identified in one patient each. Both mutations were

predicted to be functionally relevant and were absent from

the 1000 Genomes Project data and the Exome Variant

Server. The mutation c.6G>T was predicted to abolish a

potential transcription factor-binding site for specifity

protein 1. Altered specifity protein 1 expression has been

reported in SCZ patients compared with controls. Further

studies in large cohorts are warranted to determine the

relevance of the two identified mutations.