Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
In a focused study of copy number variation at the SELENBP1 locus in schizophrenia, cohort A (49 (PMID:20615253) patients vs 49 (PMID:20615253) controls) revealed reduced CN in 4 (PMID:20615253) schizophrenia probands and none of the controls. Cohort B analysis of postmortem cerebellar DNA (14 (PMID:20615253) patients vs 14 (PMID:20615253) controls) identified reduced CN in 2 (PMID:20615253) patients and none of the controls. In 26 (PMID:20615253) schizophrenia trios (cohort C), 3 (PMID:20615253) probands exhibited de novo CN reduction, supporting haploinsufficiency. Functional analysis demonstrated decreased SELENBP1 mRNA levels in patient cerebellar tissue (PMID:20615253).
The genetic evidence supports an Autosomal dominant mechanism via SELENBP1 copy loss, with no extended familial segregation beyond de novo events. The variant spectrum is restricted to structural CN reductions with recurrent findings in unrelated cases. Functional data are concordant with reduced transcript levels in key brain regions. Given the single-study source and a total of 9 probands, clinical validity is classified as Limited. Key Take-home: SELENBP1 CNV screening may inform research but lacks sufficient evidence for routine diagnostic application.
Gene–Disease AssociationLimitedSingle publication reporting 9 unrelated probands with SELENBP1 copy‐number loss ([PMID:20615253]); absence of familial segregation beyond 3 de novo events Genetic EvidenceLimited9 probands across three cohorts with recurrent SELENBP1 CNV ([PMID:20615253]); no segregation data beyond de novo findings Functional EvidenceLimitedReduced SELENBP1 mRNA levels in patient cerebellar tissue ([PMID:20615253]) without corroborative model or rescue studies |