title: Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
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.
  
  
  CONCLUSIONS
  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.
authors: Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. ljwong@bcm.edu
authors: Lee-Jun C
authors: LJ
authors: Wong
authors: Nicola
authors: N
authors: Brunetti-Pierri
authors: Qing
authors: Q
authors: Zhang
authors: Nada
authors: N
authors: Yazigi
authors: Kevin E
authors: KE
authors: Bove
authors: Beverly B
authors: BB
authors: Dahms
authors: Michelle A
authors: MA
authors: Puchowicz
authors: Ignacio
authors: I
authors: Gonzalez-Gomez
authors: Eric S
authors: ES
authors: Schmitt
authors: Cavatina K
authors: CK
authors: Truong
authors: Charles L
authors: CL
authors: Hoppel
authors: Ping-Chieh
authors: PC
authors: Chou
authors: Jing
authors: J
authors: Wang
authors: Erin E
authors: EE
authors: Baldwin
authors: Darius
authors: D
authors: Adams
authors: Nancy
authors: N
authors: Leslie
authors: Richard G
authors: RG
authors: Boles
authors: Douglas S
authors: DS
authors: Kerr
authors: William J
authors: WJ
authors: Craigen
mesh_terms: D004272:DNA, Mitochondrial / Q000378:metabolism; D018450:Disease Progression; D045222:Electron Transport Chain Complex Proteins / Q000378:metabolism; D005260:Female; D005820:Genetic Testing; D006630:Hispanic or Latino / Q000208:ethnology / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008099:Liver / Q000378:metabolism / Q000473:pathology; D017093:Liver Failure / Q000175:diagnosis / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D013781:Texas; D044465:White People / Q000208:ethnology / Q000235:genetics
chemical_list: D004272:DNA, Mitochondrial; D045222:Electron Transport Chain Complex Proteins; C511128:MPV17L protein, human; D008565:Membrane Proteins