Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death.
We describe an A-to-G transition at nucleotide 10044 in the tRNA(Gly) gene of mitochondrial DNA in a sibship in which the proband died at age 8 years after a severe encephalopathy, a brother died of sudden and unexpected death, and the other six siblings had a combination of symptoms, including apparent life-threatening events and gastroesophageal reflux. This novel mutation was very abundant (> 90%) in liver and muscle of the proband and in several tissues, including blood, from his affected siblings (range 91-99%) but was less abundant in blood from the asymptomatic mother (88%) and maternal grandmother (85%). Our findings further enlarge the spectrum of clinical presentations associated with mitochondrial DNA mutations.
Santorelli
F M
FM
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University, New York, USA.
Schlessel
J S
JS
Slonim
A E
AE
DiMauro
S
S
D000595:Amino Acid Sequence; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004272:DNA, Mitochondrial / Q000235:genetics*; D003645:Death, Sudden / Q000209:etiology*; D005260:Female; D006580:Genetic Carrier Screening; D006801:Humans; D007223:Infant; D008297:Male; D017237:Mitochondrial Encephalomyopathies / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D012353:RNA, Transfer, Gly / Q000235:genetics*
D004272:DNA, Mitochondrial; D012353:RNA, Transfer, Gly