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Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation

Lookup NU author(s): Professor Bobby McFarlandORCiD, Kim Clark, Dr Andrew Morris, Professor Robert Taylor, Dr Sheila MacPhail, Professor Robert Lightowlers, Emeritus Professor Doug Turnbull


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Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease1. 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.

Publication metadata

Author(s): Lightowlers RN; McFarland R; Taylor RW; Clark KM; Morris AAM; Macphail S; Turnbull DM

Publication type: Article

Publication status: Published

Journal: Nature Genetics

Year: 2002

Volume: 30

Issue: 2

Pages: 145-146

ISSN (print): 1061-4036

ISSN (electronic):

Publisher: Nature Publishing Group


DOI: 10.1038/ng819

PubMed id: 11799391


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