Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13

Bianca E Russell; Kaitlin G Whaley; Kevin E Bove; Anatalia Labilloy; Rachel C Lombardo; Robert J Hopkin; Nancy D Leslie; Carlos Prada; Zahra Assouline; Giulia Barcia; Juliette Bouchereau; Maryline Chomton; Dominique Debray; Imen Dorboz; Philippe Durand; Pauline Gaignard; Dalila Habes; Claude Jardel; François Labarthe; Jonathan Lévy; Anne Lombès; Claire Mehler-Jacob; Judith Melki; Laura Menvielle; Arnold Munnich; Charlotte Mussini; Samia Pichard; Marlène Rio; Agnès Rötig; Samira Sissaoui; Abdelhamid Slama; Alexander G Miethke; Manuel Schiff

doi:10.1002/hep.30627

Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13

Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16.

Authors

Bianca E Russell¹, Kaitlin G Whaley², Kevin E Bove³, Anatalia Labilloy¹, Rachel C Lombardo¹, Robert J Hopkin¹, Nancy D Leslie¹, Carlos Prada¹, Zahra Assouline⁴, Giulia Barcia⁴, Juliette Bouchereau⁵, Maryline Chomton⁶, Dominique Debray⁷, Imen Dorboz⁸, Philippe Durand⁹, Pauline Gaignard¹⁰, Dalila Habes¹¹, Claude Jardel¹², François Labarthe¹³, Jonathan Lévy¹⁴, Anne Lombès¹⁵, Claire Mehler-Jacob¹⁶, Judith Melki¹⁷, Laura Menvielle¹⁸, Arnold Munnich⁴, Charlotte Mussini¹⁹, Samia Pichard⁵, Marlène Rio⁴, Agnès Rötig^{4

20}, Samira Sissaoui²¹, Abdelhamid Slama²², Alexander G Miethke², Manuel Schiff^{5

23}

Affiliations

¹ Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
² Division of Gastroenterology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
³ Department of Pathology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.
⁴ Reference Center for Mitochondrial Diseases, Genetics Department, Institut Imagine, Necker Hospital, APHP, Paris, France.
⁵ Reference Center for Inherited Metabolic Diseases, Robert Debré Hospital, University Paris Diderot-Sorbonne Paris Cité, APHP, Paris, France.
⁶ Department of Pediatric Intensive Care, Robert-Debré Hospital, APHP, Paris, France.
⁷ Department of Pediatric Hepatology, Necker Hospital, APHP, Paris, France.
⁸ Robert-Debré Hospital, Inserm U1141, Paris, France.
⁹ Department of Pediatric Intensive Care, Bicêtre Hospital, APHP, Bicêtre, France.
¹⁰ Department of Pharmacy, Bicêtre Hospital, APHP, Bicêtre, France.
¹¹ Department of Pediatric Hepatology, Bicêtre Hospital, APHP, Bicêtre, France.
¹² Department of Biochemistry, Pitié-Salpétriêre Hospital, APHP, Paris, France.
¹³ Reference Center for Inborn Errors of Metabolism, Tours University Hospital, Tours, France.
¹⁴ Cytogenetics Department, Robert-Debré Hospital, APHP, Paris, France.
¹⁵ Institut Cochin, Inserm U1016, Paris, France.
¹⁶ Department of Pediatric Neurology, Bicêtre Hospital, APHP, Bicêtre, France.
¹⁷ Department of Genetics, Bicêtre Hospital, APHP, Bicêtre, France.
¹⁸ Department of Neonatology, Robert-Debré Hospital, APHP, Paris, France.
¹⁹ Department of Pathology, Bicêtre Hospital, APHP, Bicêtre, France.
²⁰ Institut Imagine, Inserm U1163, Paris, France.
²¹ Department of Pediatrics, Poitiers University Hospital, Poitiers, France.
²² Biochemistry Department, Bicêtre Hospital, APHP, Bicêtre, France.
²³ Inserm U1141, Paris, France.

PMID: 30912852
DOI: 10.1002/hep.30627

No abstract available

Publication types

Case Reports
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Biopsy, Needle
Cause of Death
Disease Progression
Female
Genetic Predisposition to Disease*
Hepatic Encephalopathy / genetics*
Humans
Immunohistochemistry
Infant
Infant, Newborn
Life Expectancy
Liver Failure / genetics*
Liver Failure / pathology*
Liver Function Tests
Membrane Proteins / genetics*
Mitochondrial Proteins / genetics*
Pedigree
Phenotype
Risk Assessment
Survival Rate
Twins, Monozygotic

Substances

MICOS13 protein, human
Membrane Proteins
Mitochondrial Proteins

Publication types

MeSH terms

Substances

Grants and funding