Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death

Filippo M. Santorelli, Jerrold S. Schlessel, Alfred E. Slonim, Salvatore DiMauro

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)145-149
Number of pages5
JournalPediatric Neurology
Volume15
Issue number2
DOIs
Publication statusPublished - Sep 1996

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

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