Cerebrotendinous xanthomatosis in a Hong Kong Chinese kinship with a novel splicing site mutation IVS6-1G>T in the sterol 27-hydroxylase gene.
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.
Mak
Chloe M
CM
Division of Clinical Biochemistry, Queen Mary Hospital, Hong Kong SAR, China. makm@ha.org.hk
Lam
Karen S L
KS
Tan
Kathryn C B
KC
Ma
Oliver C
OC
Tam
Sidney
S
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*
D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase