{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T18:09:17Z","timestamp":1792001357240,"version":"4.4.0"},"reference-count":24,"publisher":"The Endocrine Society","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2003,4,1]]},"abstract":"<jats:p>The 3\u03b2-hydroxy-\u03945-C27-steroid oxidoreductase (C27 3\u03b2-HSD) is a membrane-bound enzyme of the endoplasmic reticulum that catalyzes an early step in the synthesis of bile acids from cholesterol. Subjects with autosomal recessive mutations in the encoding gene, HSD3B7, on chromosome 16p11.2\u201312 fail to synthesize bile acids and develop a form of progressive liver disease characterized by cholestatic jaundice and malabsorption of lipids and lipid-soluble vitamins from the gastrointestinal tract. The gene encoding the human C27 3\u03b2-HSD enzyme was isolated previously, and a 2-bp deletion in exon 6 of HSD3B7 was identified in a well characterized subject with this disorder. Here, we report a molecular analysis of 15 additional patients from 13 kindreds with C27 3\u03b2-HSD deficiency. Twelve different mutations were identified in the HSD3B7 gene on chromosome 16p11.2\u201312. Ten mutations were studied in detail and shown to cause complete loss of enzyme activity and, in two cases, alterations in the size or amount of the transcribed mRNA. Mutations were inherited in homozygous form in 13 subjects from 10 families and compound heterozygous form in four subjects from three families. We conclude that a diverse spectrum of mutations in the HSD3B7 gene underlies this rare form of neonatal cholestasis.<\/jats:p>","DOI":"10.1210\/jc.2002-021580","type":"journal-article","created":{"date-parts":[[2003,4,4]],"date-time":"2003-04-04T19:04:48Z","timestamp":1049483088000},"page":"1833-1841","source":"Crossref","is-referenced-by-count":104,"title":["Molecular Genetics of 3\u03b2-Hydroxy-\u03945-C27-Steroid Oxidoreductase Deficiency in 16 Patients with Loss of Bile Acid Synthesis and Liver Disease"],"prefix":"10.1210","volume":"88","author":[{"given":"Jeffrey B.","family":"Cheng","sequence":"first","affiliation":[{"name":"Department of Molecular Genetics (J.B.C., D.W.R.), University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emmanuel","family":"Jacquemin","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Inserm U347 (E.J., D.C.), Bice\u0302tre University Hospital and Public Assistance Hospital of Paris, 94275 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie","family":"Gerhardt","sequence":"additional","affiliation":[{"name":"Department of Biochemistry (M.G.), St. Joseph Hospital, 75674 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hisham","family":"Nazer","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (H.N.), King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia 11211;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Danie\u0300le","family":"Cresteil","sequence":"additional","affiliation":[{"name":"Pediatric Hepatology and Inserm U347 (E.J., D.C.), Bice\u0302tre University Hospital and Public Assistance Hospital of Paris, 94275 Paris, France;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James E.","family":"Heubi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (J.E.H., K.D.R.S.), Cincinnati Children\u2019s Hospital, Cincinnati, Ohio 45229"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kenneth D. R.","family":"Setchell","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (J.E.H., K.D.R.S.), Cincinnati Children\u2019s Hospital, Cincinnati, Ohio 45229"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David W.","family":"Russell","sequence":"additional","affiliation":[{"name":"Department of Molecular Genetics (J.B.C., D.W.R.), University of Texas Southwestern Medical Center, Dallas, Texas 75390-9046;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"80","reference":[{"key":"2020071616555812400_R1","doi-asserted-by":"crossref","first-page":"1690","DOI":"10.1172\/JCI2962","article-title":"Identification of a new inborn error in bile acid synthesis: mutation of the oxysterol 7\u03b1-hydroxylase gene causes severe neonatal liver disease.","volume":"102","author":"Setchell","year":"1998","journal-title":"J Clin Invest"},{"key":"2020071616555812400_R2","doi-asserted-by":"crossref","first-page":"2148","DOI":"10.1172\/JCI113837","article-title":"D4-3-oxosteroid 5\u03b2-reductase deficiency described in identical twins with neonatal hepatitis. 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