Mak Chloe M, Lam Karen S L, Tan Kathryn C B, Ma Oliver C, Tam Sidney
Division of Clinical Biochemistry, Queen Mary Hospital, Hong Kong SAR, China.
Mol Genet Metab. 2004 Feb;81(2):144-6. doi: 10.1016/j.ymgme.2003.11.005.
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.
