A Founder Mutation (R254X) of SLC22A5 (OCTN2) in Chinese Primary Carnitine Deficiency Patients
Publication in refereed journal



摘要Mutations in the SLC22A5 gene, which encodes for the plasma membrane carnitine transporter OCTN2, cause primary carnitine deficiency (PCD). After our first report of OCTN2 mutations in Chinese, three more Chinese PCD patients were identified. The parents of these families were non-consanguineous and these families were unrelated. Two novel truncating mutations were found: R254X, a single-base mutation at cDNA position 981 (c. 981C>T); and Y387X (c. 1382T>G). Two probands, one each from Taiwan and Macau, were homozygous for R254X. The other proband from Taiwan carried both R254X and Y387X. Two additional heterozygote carriers of R254X were also identified among 250 control samples, while none was detected for Y387X. The population carrier rate for R254X would be about 1 in 125. Haplotypes of R254X alleles were examined and patients homozygous for R254X were also homozygous for the same haplotype of intragenic and microsatellites markers. Analysis of population frequencies of haplotypes revealed that the chance of 4 chromosomes having arisen as independent events was 0.016. We conclude that R254X is probably a founder mutation in Chinese. Other previously reported mutations found in the Japanese population were also screening in 250 control samples but no carrier was identified, indicating that they were either very rare or not present in Southern Chinese. (C) 2002 Wiley-Liss, Inc.
著者Tang NLS, Hwu WL, Chan RT, Law LK, Fung LM, Zhang WM
期刊名稱Human Mutation
關鍵詞Chinese; founder mutation; OCTN2; Primary carnitine deficiency; SLC22A5
Web of Science 學科類別Genetics & Heredity

上次更新時間 2020-16-09 於 01:17