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Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation
Author(s) -
Berger Itai,
Hershkovitz Eli,
Shaag Avraham,
Edvardson Simon,
Saada Ann,
Elpeleg Orly
Publication year - 2008
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21332
Subject(s) - lactic acidosis , mutation , splice site mutation , mitochondrial disease , genetics , medicine , disease gene identification , mutation testing , biology , gene , mitochondrial dna , rna splicing , exome sequencing , rna
Complex I deficiency is the most common respiratory chain defect, clinically manifesting by severe neonatal lactic acidosis, Leigh's disease, or various combinations of cardiac, hepatic, and renal disorders. Using homozygosity mapping, we identified a splice‐site mutation in the NDUFA11 gene in six patients from three unrelated families. The patients presented with encephalocardiomyopathy or fatal infantile lactic acidemia. The mutation is predicted to abolish the first transmembrane domain of the gene product, thereby destabilizing the enzymatic complex. Mutation analysis of the NDUFA11 is warranted in isolated complex I deficiency presenting with infantile lactic acidemia or encephalocardiomyopathy. Ann Neurol 2008