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: Sunghwan Suh, Hee Kyung Kim, Hyung-Doo Park, Chang-Seok Ki, Mi Yeon Kim, Sang-Man Jin, Se Won Kim, Kyu Yeon Hur, Kwang-Won Kim, Jae Hyeon Kim
• Journal: European journal of medical genetics (Eur J Med Genet) Vol. 55 Issue 1 Pg. 71-4 (Jan 2012) ISSN: 1878-0849 [Electronic] Netherlands
• PMID: 21958693 (Publication Type: Case Reports, Journal Article)
• Copyright: Copyright © 2011 Elsevier Masson SAS. All rights reserved.

Chemical References

• Chenodeoxycholic Acid
• Cholestanol
• CYP27A1 protein, human
• Cholestanetriol 26-Monooxygenase

Topics

• Adult
• Amino Acid Substitution
• Cataract (genetics, pathology)
• Cerebellar Ataxia (genetics, pathology)
• Chenodeoxycholic Acid (therapeutic use)
• Cholestanetriol 26-Monooxygenase (genetics)
• Cholestanol (genetics, metabolism)
• Female
• Humans
• INDEL Mutation
• Intellectual Disability (genetics, pathology)
• Male
• Middle Aged
• Pedigree
• Peripheral Nervous System Diseases (genetics, pathology)
• Sequence Analysis, DNA
• Siblings
• Xanthomatosis, Cerebrotendinous (drug therapy, genetics, pathology)