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Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Antonella Spinazzola, René Santer, Orhan H Akman, Kostas Tsiakas, Hansjoerg Schaefer, Xiaoqi Ding, Charalampos L Karadimas, Sara Shanske, Jaya Ganesh, Salvatore Di Mauro, Massimo Zeviani,
Autosomal recessive mutations in MPV17 (OMIM *137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS).
Archives of neurology - Aug 2008
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,
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.
American journal of human genetics - Sep 2006