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This summary evaluates the association between IQUB (HGNC:21995) and bipolar disorder (MONDO_0004985). In a single multiplex family with four siblings (three affected females and one unaffected male), exome sequencing identified a very rare, heterozygous, and predicted protein‐damaging variant in IQUB among seven brain‑expressed candidate genes (PMID:24348429). The variant segregated with the disease phenotype, as all affected siblings harbored the variant while it was absent in the unaffected sibling and over 200 controls. This familial observation supports an autosomal dominant inheritance pattern for the variant’s contribution to bipolar disorder. However, the evidence is limited by its derivation from a single family without independent replication or additional functional validation linking IQUB specifically to bipolar pathogenesis. As such, while the genetic data suggest a potential role for IQUB in familial bipolar disorder, further studies are essential to substantiate its clinical utility.
Gene–Disease AssociationLimitedEvidence is limited to a single multiplex family with three affected siblings segregating a rare, heterozygous, likely protein‑damaging IQUB variant (PMID:24348429). Genetic EvidenceLimitedGenetic evidence is derived from a single case series showing segregation of the variant with bipolar disorder, with no additional replication studies (PMID:24348429). Functional EvidenceNoneNo functional studies have directly assessed the role of IQUB in the pathobiology of bipolar disorder. |