title: Three siblings with Cerebrotendinous Xanthomatosis: a novel mutation in the CYP27A1 gene.
abstract: Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal recessive lipid storage disease caused by sterol 27-hydroxylase (CYP27) deficiency. We report three CTX siblings that shared a novel mutation of the CYP27A1 gene. These siblings presented with elevated cholestanol levels and typical manifestations such as tendon xanthomas, cataracts, osteopenia, mental retardation, cerebellar ataxia and peripheral neuropathy. All shared the same genetic mutation, c.1146_1151delins and c.1214G>A of CYP27A1. All were treated with 750 mg/day chenodeoxycholic acid (CDCA). In conclusion, one should consider the possibility of CTX in any individual with normocholesterolemic xanthomatosis, early-onset cataracts, mental retardation, cerebellar ataxia and peripheral neuropathy.
authors.affiliation: Division of Endocrinology and Metabolism, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Irwon-Dong, Gangnam-Gu, Seoul 135-710, Republic of Korea.
authors.forename: Sunghwan
authors.initials: S
authors.lastname: Suh
authors.forename: Hee Kyung
authors.initials: HK
authors.lastname: Kim
authors.forename: Hyung-Doo
authors.initials: HD
authors.lastname: Park
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Mi Yeon
authors.initials: MY
authors.lastname: Kim
authors.forename: Sang-Man
authors.initials: SM
authors.lastname: Jin
authors.forename: Se Won
authors.initials: SW
authors.lastname: Kim
authors.forename: Kyu Yeon
authors.initials: KY
authors.lastname: Hur
authors.forename: Kwang-Won
authors.initials: KW
authors.lastname: Kim
authors.forename: Jae Hyeon
authors.initials: JH
authors.lastname: Kim
mesh_terms: D000328:Adult; D019943:Amino Acid Substitution; D002386:Cataract / Q000235:genetics / Q000473:pathology; D002524:Cerebellar Ataxia / Q000235:genetics / Q000473:pathology; D002635:Chenodeoxycholic Acid / Q000627:therapeutic use; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics*; D004083:Cholestanol / Q000235:genetics / Q000378:metabolism; D005260:Female; D006801:Humans; D054643:INDEL Mutation; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010523:Peripheral Nervous System Diseases / Q000235:genetics / Q000473:pathology; D017422:Sequence Analysis, DNA; D035781:Siblings; D019294:Xanthomatosis, Cerebrotendinous / Q000188:drug therapy / Q000235:genetics* / Q000473:pathology
chemical_list: D002635:Chenodeoxycholic Acid; D004083:Cholestanol; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase