title: 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.affiliation: Division of Clinical Biochemistry, Queen Mary Hospital, Hong Kong SAR, China. makm@ha.org.hk
authors.forename: Chloe M
authors.initials: CM
authors.lastname: Mak
authors.forename: Karen S L
authors.initials: KS
authors.lastname: Lam
authors.forename: Kathryn C B
authors.initials: KC
authors.lastname: Tan
authors.forename: Oliver C
authors.initials: OC
authors.lastname: Ma
authors.forename: Sidney
authors.initials: S
authors.lastname: Tam
mesh_terms: D044466:Asian People; D053493:Cholestanetriol 26-Monooxygenase; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006723:Hong Kong / Q000208:ethnology; D006801:Humans; D008297:Male; D008875:Middle Aged; D020125:Mutation, Missense; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length; D012326:RNA Splicing; D013250:Steroid Hydroxylases / Q000235:genetics*; D019294:Xanthomatosis, Cerebrotendinous / Q000235:genetics*
chemical_list: D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase