HSD3B7 was first reported in relation to autosomal recessive congenital bile acid synthesis defect 1 in 2000 (Schwarz M, et al., 2000, PMID: 11067870). The 3β-HSD enzymatic system plays a crucial role in the biosynthesis of all classes of hormonal steroids and HSD VII is active against four 7-alpha-hydroxylated sterols. The deficiency of 3β-HSD causes congenital defects of bile acid synthesis, characterized by neonatal onset of progressive liver disease with cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract resulting from a primary failure to synthesize bile acids. Affected infants show failure to thrive and secondary coagulopathy. At least 53 cases of 3β-HSD have been reported (reviewed in PMID: 26080666), with six variants (missense, frameshift, and nonsense) from 6 probands (and 1 additional family member) in 2 publications (PMIDs: 11067870, 12679481) included here. This gene-disease association is also supported by its biochemical functions in bile acid synthesis and enriched expression in the liver (PMID: 11067870). Additionally, a knockout mouse model that recapitulates human phenotype (PMID: 17601774). In summary, HSD3B7 is definitively associated with autosomal recessive congenital bile acid synthesis defect 1. This has been repeatedly demonstrated in both the research and clinical diagnostic settings, and has been upheld over time.
The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).
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