期刊
NEUROMUSCULAR DISORDERS
卷 19, 期 2, 页码 151-154出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2008.11.002
关键词
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE); Thymidine phosphorylase; TYMP; Mitochondrial DNA
资金
- Ambrose and Ann Appelbe Trust
- MRC [G0601943] Funding Source: UKRI
- Medical Research Council [G0601943, G0601943B] Funding Source: researchfish
Mitochondrial neurogastrointestinal encephalomyopathy is an autosomal recessive disorder caused by loss-of-function mutations in the thymidine phosphorylase gene (TYMP). We report here a patient compound heterozygous for two TYMP mutations: a novel g.4009G>A transition affecting the consensus splice donor site of intron 9, and a previously reported g.675G>C splice site mutation. The novel mutation causes exon 9 skipping but leaves the reading frame intact: however, TYMP protein was not detected by immunoblot analysis, suggesting that neither mutant allele is expressed as protein. The patient's fibroblasts showed gradual loss of the mitochondrial DNA-encoded subunit 1 of cytochrome-c oxidase, suggesting a progressive mitochondrial DNA defect in culture. (C) 2008 Elsevier B.V. All rights reserved.
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