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A single-family study identified a homozygous missense variant, c.750C>G (p.His250Gln), in BAHCC1 in two affected siblings with spinal muscular atrophy (SMA) (PMID:27928163). Although the SMA phenotype follows an autosomal recessive inheritance pattern and the variant was detected in a family quartet, the genetic evidence is limited by its confinement to one family and a lack of extensive segregation data. In silico analyses do not support a deleterious effect for the BAHCC1 variant, with experimental findings favoring TBCD as the more likely causative gene.
In summary, while BAHCC1 was reported as a candidate gene based on the detection of the variant, the overall evidence remains weak and conflicting. The genetic and functional data do not robustly underpin a pathogenic role for BAHCC1 in SMA, and the association is thus classified as disputed. Additional studies are required to assess any potential contribution of BAHCC1 to SMA, a determination that is critical for diagnostic decision‑making and future clinical applications.
Gene–Disease AssociationDisputedThe association is based solely on a single-family observation where a homozygous missense variant (c.750C>G (p.His250Gln)) in BAHCC1 was reported, yet in silico analysis and functional data favor TBCD as the pathogenic gene (PMID:27928163). Genetic EvidenceLimitedGenetic evidence is confined to one family with two affected siblings and lacks robust segregation data; the reported variant in BAHCC1 remains unsupported by computational predictions (PMID:27928163). Functional EvidenceLimitedFunctional assays do not demonstrate a pathogenic role for BAHCC1 in SMA, and experimental findings preferentially implicate TBCD as the causative factor (PMID:27928163). |