Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
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.
Wong
Lee-Jun C
LJ
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. ljwong@bcm.edu
Brunetti-Pierri
Nicola
N
Zhang
Qing
Q
Yazigi
Nada
N
Bove
Kevin E
KE
Dahms
Beverly B
BB
Puchowicz
Michelle A
MA
Gonzalez-Gomez
Ignacio
I
Schmitt
Eric S
ES
Truong
Cavatina K
CK
Hoppel
Charles L
CL
Chou
Ping-Chieh
PC
Wang
Jing
J
Baldwin
Erin E
EE
Adams
Darius
D
Leslie
Nancy
N
Boles
Richard G
RG
Kerr
Douglas S
DS
Craigen
William J
WJ
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
D004272:DNA, Mitochondrial; D045222:Electron Transport Chain Complex Proteins; C511128:MPV17L protein, human; D008565:Membrane Proteins