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MPV17â related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
dc.contributor.authorEl‐hattab, Ayman W.
dc.contributor.authorWang, Julia
dc.contributor.authorDai, Hongzheng
dc.contributor.authorAlmannai, Mohammed
dc.contributor.authorStaufner, Christian
dc.contributor.authorAlfadhel, Majid
dc.contributor.authorGambello, Michael J.
dc.contributor.authorPrasun, Pankaj
dc.contributor.authorRaza, Saleem
dc.contributor.authorLyons, Hernando J.
dc.contributor.authorAfqi, Manal
dc.contributor.authorSaleh, Mohammed A. M.
dc.contributor.authorFaqeih, Eissa A.
dc.contributor.authorAlzaidan, Hamad I.
dc.contributor.authorAlshenqiti, Abduljabbar
dc.contributor.authorFlore, Leigh Anne
dc.contributor.authorHertecant, Jozef
dc.contributor.authorSacharow, Stephanie
dc.contributor.authorBarbouth, Deborah S.
dc.contributor.authorMurayama, Kei
dc.contributor.authorShah, Amit A.
dc.contributor.authorLin, Henry C.
dc.contributor.authorWong, Lee‐jun C.
dc.date.accessioned2018-03-07T18:24:34Z
dc.date.available2019-05-13T14:45:24Zen
dc.date.issued2018-04
dc.identifier.citationEl‐hattab, Ayman W. ; Wang, Julia; Dai, Hongzheng; Almannai, Mohammed; Staufner, Christian; Alfadhel, Majid; Gambello, Michael J.; Prasun, Pankaj; Raza, Saleem; Lyons, Hernando J.; Afqi, Manal; Saleh, Mohammed A. M.; Faqeih, Eissa A.; Alzaidan, Hamad I.; Alshenqiti, Abduljabbar; Flore, Leigh Anne; Hertecant, Jozef; Sacharow, Stephanie; Barbouth, Deborah S.; Murayama, Kei; Shah, Amit A.; Lin, Henry C.; Wong, Lee‐jun C. (2018). "MPV17â related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects." Human Mutation 39(4): 461-470.
dc.identifier.issn1059-7794
dc.identifier.issn1098-1004
dc.identifier.urihttps://hdl.handle.net/2027.42/142478
dc.description.abstractMitochondrial DNA (mtDNA) maintenance defects are a group of diseases caused by deficiency of proteins involved in mtDNA synthesis, mitochondrial nucleotide supply, or mitochondrial dynamics. One of the mtDNA maintenance proteins is MPV17, which is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. In 2006, pathogenic variants in MPV17 were first reported to cause infantileâ onset hepatocerebral mtDNA depletion syndrome and Navajo neurohepatopathy. To date, 75 individuals with MPV17â related mtDNA maintenance defect have been reported with 39 different MPV17 pathogenic variants. In this report, we present an additional 25 affected individuals with nine novel MPV17 pathogenic variants. We summarize the clinical features of all 100 affected individuals and review the total 48 MPV17 pathogenic variants. The vast majority of affected individuals presented with an earlyâ onset encephalohepatopathic disease characterized by hepatic and neurological manifestations, failure to thrive, lactic acidemia, and mtDNA depletion detected mainly in liver tissue. Rarely, MPV17 deficiency can cause a lateâ onset neuromyopathic disease characterized by myopathy and peripheral neuropathy with no or minimal liver involvement. Approximately half of the MPV17 pathogenic variants are missense. A genotype with biallelic missense variants, in particular homozygous p.R50Q, p.P98L, and p.R41Q, can carry a relatively better prognosis.MPV17 is a mitochondrial inner membrane protein involved in importing deoxynucleotides into the mitochondria. To date, 75 individuals with MPV17â related mitochondrial DNA (mtDNA) maintenance defect have been reported with 39 different MPV17 pathogenic variants. In this report, we present an additional 25 affected individuals with 9 novel MPV17 pathogenic variants. The vast majority of affected individuals presented with an earlyâ onset encephalohepatopathic disease. Rarely, MPV17 deficiency can cause a lateâ onset neuromyopathic disease with no or minimal liver involvement.
dc.publisherWiley Periodicals, Inc.
dc.subject.othermultiple mtDNA deletions
dc.subject.othermitochondrial DNA (mtDNA)
dc.subject.otherMPV17
dc.subject.othermtDNA depletion
dc.subject.othermtDNA maintenance
dc.titleMPV17â related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects
dc.typeArticleen_US
dc.rights.robotsIndexNoFollow
dc.subject.hlbsecondlevelGenetics
dc.subject.hlbtoplevelScience
dc.subject.hlbtoplevelHealth Sciences
dc.description.peerreviewedPeer Reviewed
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/142478/1/humu23387_am.pdf
dc.description.bitstreamurlhttps://deepblue.lib.umich.edu/bitstream/2027.42/142478/2/humu23387.pdf
dc.identifier.doi10.1002/humu.23387
dc.identifier.sourceHuman Mutation
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dc.owningcollnameInterdisciplinary and Peer-Reviewed


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