Schizophrenia susceptibility associated with interstitial deletions of chromosome 22q11.

TLDR

The study reports two investigations into the genetic overlap between schizophrenia and velocardiofacial syndrome, including an analysis of how deletion size variations relate to the schizophrenic phenotype. The authors characterized two interstitial deletions on chromosome 22q11 in schizophrenic patients and examined how deletion size variations associate with the phenotype. The deletions measured 1.5–2 Mb and were found in a genomic region linked to schizophrenia, suggesting that lesions there increase susceptibility and enabling future gene identification and subgrouping.

Abstract

We report the results of two studies examining the genetic overlap between schizophrenia and velocardiofacial syndrome. In study A, we characterize two interstitial deletions identified on chromosome 22q11 in a sample of schizophrenic patients. The size of the deletions was estimated to be between 1.5 and 2 megabases. In study B, we examine whether variations in deletion size are associated with the schizophrenic phenotype in velocardiofacial syndrome patients. Our results show that a region of the genome that has been previously implicated by genetic linkage analysis can harbor genetic lesions that increase the susceptibility to schizophrenia. Our findings should facilitate identification and cloning of the schizophrenia susceptibility gene(s) in this region and identification of more homogeneous subgroups of patients.