期刊
MOLECULAR GENETICS AND METABOLISM
卷 113, 期 3, 页码 207-212出版社
ACADEMIC PRESS INC ELSEVIER SCIENCE
DOI: 10.1016/j.ymgme.2014.06.004
关键词
MLASA; Lactic acidosis; Mitochondria; ATP6; Mitochondrial myopathy
资金
- Genzyme/ACMG Foundation for Genetic and Genomic Medicine Medical Genetics Training Award in Clinical Biochemical Genetics
- Medical Genetics Research Fellowship Program NIH/NIGMS [NIH T32 GM07526]
- NIH/NIGMS [R01 GM098387]
- Cytometry and Cell Sorting Core at Baylor College of Medicine
- NIH [NIAID P30AI036211, NCI P30CA125123, NCRR S10RR024574]
Mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) is a rare mitochondrial disorder that has previously been associated with mutations in PUS1 and YARS2. In the present report, we describe a 6-year old male with an MLASA plus phenotype. This patient had features of MLASA in the setting of developmental delay, sensorineural hearing loss, epilepsy, agenesis of the corpus callosum, failure to thrive, and stroke-like episodes. Sequencing of the mitochondrial genome identified a novel de novo, heteroplasmic mutation in the mitochondrial DNA (mtDNA) encoded ATP6 gene (m.8969G>A, p.S148N). Whole exome sequencing did not identify mutations or variants in PUS1 or YARS2 or any known nuclear genes that could affect mitochondrial function and explain this phenotype. Studies of fibroblasts derived from the patient revealed a decrease in oligomycin-sensitive respiration, a finding which is consistent with a complex V defect. Thus, this mutation in MT-ATP6 may represent the first mtDNA point mutation associated with the MLASA phenotype. (C) 2014 Elsevier Inc All rights reserved.
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