Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy

Lee Jun C. Wong, Nicola Brunetti-Pierri, Qing Zhang, Nada Yazigi, Kevin E. Bove, Beverly B. Dahms, Michelle Puchowicz, Ignacio Gonzalez-Gomez, Eric S. Schmitt, Cavatina K. Truong, Charles L. Hoppel, Ping Chieh Chou, Jing Wang, Erin E. Baldwin, Darius Adams, Nancy Leslie, Richard G. Boles, Douglas S. Kerr, William J. Craigen

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Abstract

MPV17 is a mitochondrial inner membrane protein of unknown function recently recognized as responsible for a mitochondrial DNA depletion syndrome. The aim of this study is to delineate the specific clinical, pathological, biochemical, and molecular features associated with mitochondrial DNA depletion due to MPV17 gene mutations. We report 4 cases from 3 ethnically diverse families with MPV17 mutations. Importantly, 2 of these cases presented with isolated liver failure during infancy without notable neurologic dysfunction. Conclusion: We therefore propose that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure.

Original languageEnglish (US)
Pages (from-to)1218-1227
Number of pages10
JournalHepatology
Volume46
Issue number4
DOIs
StatePublished - Oct 1 2007

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Liver Failure
Mitochondrial DNA
Mutation
Genes
Neurologic Manifestations
Membrane Proteins

All Science Journal Classification (ASJC) codes

  • Hepatology

Cite this

Wong, L. J. C., Brunetti-Pierri, N., Zhang, Q., Yazigi, N., Bove, K. E., Dahms, B. B., ... Craigen, W. J. (2007). Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology, 46(4), 1218-1227. https://doi.org/10.1002/hep.21799

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. / Wong, Lee Jun C.; Brunetti-Pierri, Nicola; Zhang, Qing; Yazigi, Nada; Bove, Kevin E.; Dahms, Beverly B.; Puchowicz, Michelle; Gonzalez-Gomez, Ignacio; Schmitt, Eric S.; Truong, Cavatina K.; Hoppel, Charles L.; Chou, Ping Chieh; Wang, Jing; Baldwin, Erin E.; Adams, Darius; Leslie, Nancy; Boles, Richard G.; Kerr, Douglas S.; Craigen, William J.

In: Hepatology, Vol. 46, No. 4, 01.10.2007, p. 1218-1227.

Research output: Contribution to journalArticle

Wong, LJC, Brunetti-Pierri, N, Zhang, Q, Yazigi, N, Bove, KE, Dahms, BB, Puchowicz, M, Gonzalez-Gomez, I, Schmitt, ES, Truong, CK, Hoppel, CL, Chou, PC, Wang, J, Baldwin, EE, Adams, D, Leslie, N, Boles, RG, Kerr, DS & Craigen, WJ 2007, 'Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy', Hepatology, vol. 46, no. 4, pp. 1218-1227. https://doi.org/10.1002/hep.21799
Wong LJC, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB et al. Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. Hepatology. 2007 Oct 1;46(4):1218-1227. https://doi.org/10.1002/hep.21799
Wong, Lee Jun C. ; Brunetti-Pierri, Nicola ; Zhang, Qing ; Yazigi, Nada ; Bove, Kevin E. ; Dahms, Beverly B. ; Puchowicz, Michelle ; Gonzalez-Gomez, Ignacio ; Schmitt, Eric S. ; Truong, Cavatina K. ; Hoppel, Charles L. ; Chou, Ping Chieh ; Wang, Jing ; Baldwin, Erin E. ; Adams, Darius ; Leslie, Nancy ; Boles, Richard G. ; Kerr, Douglas S. ; Craigen, William J. / Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy. In: Hepatology. 2007 ; Vol. 46, No. 4. pp. 1218-1227.
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