Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene.

Abstract

We reported a Hong Kong Chinese proband with Cerebrotendinous Xanthomatosis in which a novel acceptor splicing site mutation (IVS6-1G>T) was identified. Family screening revealed the same mutation in his elder brother and the youngest sister. All the three affected siblings were compound heterozygous for IVS6-1G>T and a known missense mutation R372Q (GenBank Accession No. M62401). Significant phenotypic variation was noted among them that the youngest sister was still symptom-free at the time of writing.

• Authors: Chloe M Mak, Karen S L Lam, Kathryn C B Tan, Oliver C Ma, Sidney Tam
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 81 Issue 2 Pg. 144-6 (Feb 2004) ISSN: 1096-7192 [Print] United States
• PMID: 14741198 (Publication Type: Case Reports, Journal Article)

Chemical References

• Steroid Hydroxylases
• CYP27A1 protein, human
• Cholestanetriol 26-Monooxygenase

Topics

• Asian People
• Cholestanetriol 26-Monooxygenase
• Female
• Frameshift Mutation
• Heterozygote
• Hong Kong (ethnology)
• Humans
• Male
• Middle Aged
• Mutation, Missense
• Pedigree
• Polymorphism, Restriction Fragment Length
• RNA Splicing
• Steroid Hydroxylases (genetics)
• Xanthomatosis, Cerebrotendinous (genetics)