Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

• Published in: Nature genetics Vol. 30; no. 2; pp. 145 - 146
• Main Authors: McFarland, Robert, Clark, Kim M., Morris, Andrew A.M., Taylor, Robert W., Macphail, Sheila, Lightowlers, Robert N., Turnbull, Douglass M.
• Format: Journal Article
• Language: English
• Published: New York Nature Publishing Group US 01.02.2002; Nature Publishing Group
• Subjects: Adult; Agriculture; Animal Genetics and Genomics; Biological and medical sciences; Biomedical and Life Sciences; Biomedicine; brief-communication; Cancer Research; Classical genetics, quantitative genetics, hybrids; Complications and side effects; Diagnosis; DNA Mutational Analysis; DNA sequencing; DNA, Mitochondrial - genetics; Female; Fundamental and applied biological sciences. Psychology; Gene Function; Gene mutations; Genetics of eukaryotes. Biological and molecular evolution; Health aspects; Human; Human Genetics; Humans; Identification and classification; Infant, Newborn; Leigh disease; Leigh Disease - genetics; Leigh syndrome; Male; Methods; Mitochondrial Diseases - genetics; Mitochondrial DNA; Mutation; Nucleotide sequencing; Pedigree; Phenotype; Risk factors; United Kingdom; Human; Mitochondria; Neonatal; tRNA; Valine; Mortality; Mitochondrial DNA; Mutation
• ISSN: 1061-4036; 1546-1718
• DOI: 10.1038/ng819

Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease 1 . We describe a family with an unusual homoplasmic mutation that resulted in six neonatal deaths and one surviving child with Leigh syndrome. The mother is clinically normal, but a severe biochemical and molecular genetic defect was present in both a fatally affected child and the mother. This family highlights the role of homoplasmic mt-tRNA mutations in genetic disease.