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!
The DNAJB13 gene is associated with Primary Ciliary Dyskinesia (PCD) in an autosomal-recessive manner. Two unrelated probands presenting with recurrent respiratory-tract infections and male infertility were found to harbor homozygous biallelic variants: a missense change, c.833T>G (p.Met278Arg), and a canonical splice-site mutation, c.68+1G>C, each segregating with PCD characterized by central complex defects (PMID:27486783). Functional assays demonstrated that the p.Met278Arg substitution induces protein instability, proteasomal degradation, and absence of endogenous DNAJB13 in patient cilia and sperm, consistent with a loss-of-function mechanism (PMID:27486783).
This body of evidence supports a Limited level of clinical validity, based on two case-level observations with confirmed biallelic variants and strong concordant functional data. Additional reports and larger cohorts are needed to elevate the association. Key Take-home: Biallelic DNAJB13 variants can underlie PCD, informing molecular diagnosis and genetic counseling.
Gene–Disease AssociationLimitedTwo unrelated probands with homozygous DNAJB13 variants and consistent PCD phenotypes, supported by functional studies Genetic EvidenceLimitedCase-level data: 2 probands with biallelic variants (one missense, one splice) Functional EvidenceModerateIn vitro assays show p.Met278Arg induces protein instability, loss in cilia and sperm, consistent with loss-of-function |