Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

Charalampos L. Karadimas, Tuan H. Vu, Stephen A. Holve, Penelope Chronopoulou, Catarina Quinzii, Stanley D. Johnsen, Janice Kurth, Elizabeth Eggers, Lluis Palenzuela, Kurenai Tanji, Eduardo Bonilla, Darryl C. De Vivo, Salvatore DiMauro, Michio Hirano

Research output: Contribution to journalArticlepeer-review

120 Scopus citations


Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States. The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure to thrive, and recurrent metabolic acidosis with intercurrent infections. Infantile, childhood, and classic forms of NNH have been described. Mitochondrial DNA (mtDNA) depletion was detected in the livers of two patients, suggesting a primary defect in mtDNA maintenance. Homozygosity mapping of two families with NNH suggested linkage to chromosome 2p24. This locus includes the MPV17 gene, which, when mutated, causes a hepatocerebral form of mtDNA depletion. Sequencing of the MPV17 gene in six patients with NNH from five families revealed the homozygous R50Q mutation described elsewhere. Identification of a single missense mutation in patients with NNH confirms that the disease is probably due to a founder effect and extends the phenotypic spectrum associated with MPV17 mutations.

Original languageEnglish (US)
Pages (from-to)544-548
Number of pages5
JournalAmerican journal of human genetics
Issue number3
StatePublished - Sep 2006
Externally publishedYes

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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