Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene

C. Dionisi-Vici, S. Seneca, M. Zeviani, G. Fariello, M. Rlmoldi, E. Bertini, L. De Meirleir

Research output: Contribution to journalArticlepeer-review

Abstract

We report an Italian family in which the T-to-C point mutation at nucleotide 9176 of the mitochondrial adenosine triphosphate synthetase (mtATPase) 6 gene is associated with an early-onset fulminant form of Leigh syndrome and with sudden unexpected death in two siblings, respectively. Polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis and direct sequencing revealed that the mutation was homoplasmic in mitochondrial DNA of the proband. The T9176C mutation changes a highly conserved leucine to a proline in subunit 6 of the mtATPase gene and is maternally inherited, but the maternal relatives are asymptomatic. This point mutation was initially described in two brothers with bilateral striatal necrosis, a milder variant of Leigh syndrome.

Original languageEnglish
Pages (from-to)2-8
Number of pages7
JournalJournal of Inherited Metabolic Disease
Volume21
Issue number1
DOIs
Publication statusPublished - 1998

ASJC Scopus subject areas

  • Endocrinology
  • Genetics
  • Genetics(clinical)

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