Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology

Journal of Hepatology

Volumn 61, Issue 5, 2014, Pages 1056-1063

  Vilarinho, Sílvia ^a   Choi, Murim ^a,b   Jain, Dhanpat ^a   Malhotra, Ajay ^a   Kulkarni, Sanjay ^a   Pashankar, Dinesh ^a   Phatak, Uma ^a   Patel, Mohini ^a   Bale, Allen ^a   Mane, Shrikant ^a   Lifton, Richard P ^a   Mistry, Pramod K ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b Seoul National University College of Medicine   (South Korea)

Author keywords

Genetic diagnosis; Germline mutations; Inherited metabolic liver diseases; Liver failure of indeterminate aetiology; Whole exome sequencing

Indexed keywords

MITOCHONDRIAL DNA; CARBOXYLESTERASE; MEMBRANE PROTEIN; MITOCHONDRIAL PROTEIN; MPV17 PROTEIN, HUMAN; NOTCH2 PROTEIN, HUMAN; NOTCH2 RECEPTOR; RNA SPLICING; SERAC1 PROTEIN, HUMAN;

ARTICLE; CASE REPORT; CHILD; CHOLESTASIS; DECOMPENSATED LIVER CIRRHOSIS; EXOME; FATALITY; FEMALE; GENE MUTATION; HUMAN; LIVER FAILURE; LIVER TRANSPLANTATION; LOSS OF FUNCTION MUTATION; MALE; NEWBORN; PEDIATRICS; PRIORITY JOURNAL; SCHOOL CHILD; WILSON DISEASE; ACUTE LIVER FAILURE; AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; END STAGE LIVER DISEASE; GENETICS; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HOMOZYGOTE; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; RECESSIVE GENE; RNA SPLICING; SEQUENCE HOMOLOGY;

AMINO ACID SEQUENCE; BASE SEQUENCE; CARBOXYLIC ESTER HYDROLASES; CHILD; CHOLESTASIS; DNA MUTATIONAL ANALYSIS; END STAGE LIVER DISEASE; EXOME; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HEPATOLENTICULAR DEGENERATION; HETEROZYGOTE; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LIVER FAILURE; LIVER FAILURE, ACUTE; MALE; MEMBRANE PROTEINS; MITOCHONDRIAL PROTEINS; MOLECULAR SEQUENCE DATA; PEDIGREE; RECEPTOR, NOTCH2; RNA SPLICE SITES; SEQUENCE HOMOLOGY, AMINO ACID;

EID: 84938530111     PISSN: 01688278     EISSN: 16000641     Source Type: Journal    
DOI: 10.1016/j.jhep.2014.06.038     Document Type: Article

References (28)

1. Squires Jr. RH, Shneider BL, Bucuvalas J, Alonso E, Sokol RJ, Narkewicz MR, et al. Acute liver failure in children: The first 348 patients in the pediatric acute liver failure study group. J Pediatr 2006;148: 652-658.
2. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Clinical whole-exome sequencing for the diagnosis of mendelian disorders. N Engl J Med 2013;369: 1502-1511.
3. Jacob HJ, Abrams K, Bick DP, Brodie K, Dimmock DP, Farrell M, et al. Genomics in clinical practice: Lessons from the front lines. Sci Transl Med 2013;5: 194-195.
4. Choi M, Scholl UI, Ji W, Liu T, Tikhonova IR, Zumbo P, et al. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing. Proc Natl Acad Sci U S A 2009;106: 19096-19101.
5. Wortmann SB, Vaz FM, Gardeitchik T, Vissers LE, Renkema GH, Schuurs-Hoeijmakers JH, et al. Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nat Genet 2012;44: 797-802.
6. Wortmann S, Rodenburg RJ, Huizing M, Loupatty FJ, de Koning T, Kluijtmans LA, et al. Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. Mol Genet Metab 2006;88: 47-52.
7. Sambrotta M, Strautnieks S, Papouli E, Rushton P, Clark BE, Parry DA, et al. Mutations in TJP2 cause progressive cholestatic liver disease. Nat Genet 2014;46: 326-328.
8. Cnossen WR, te Morsche RH, Hoischen A, Gilissen C, Chrispijn M, Venselaar H, et al. Whole-exome sequencing reveals LRP5 mutations and canonical Wnt signaling associated with hepatic cystogenesis. Proc Natl Acad Sci U S A 2014;111: 5343-5348.
9. Casey JP, McGettigan P, Lynam-Lennon N, McDermott M, Regan R, Conroy J, et al. Identification of a mutation in LARS as a novel cause of infantile hepatopathy. Mol Genet Metab 2012;106: 351-358.
10. Ferenci P, Caca K, Loudianos G, Mieli-Vergani G, Tanner S, Sternlieb I, et al. Diagnosis and phenotypic classification of Wilson disease. Liver Int 2003;23: 139-142.
11. EASL Clinical Practice Guidelines. Wilson's disease. J Hepatol 2012;56: 671-685.
12. Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, et al. MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion. Nat Genet 2006;38: 570-575.
13. Wong LJ, 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;46: 1218-1227.
14. Sarig O, Goldsher D, Nousbeck J, Fuchs-Telem D, Cohen-Katsenelson K, Iancu TC, et al. Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1. Am J Med Genet Part A 2013;161: 2204-2215.
15. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, et al. Targeted capture and massively parallel sequencing of 12 human exomes. Nature 2009;461: 272-276.
16. Liu C, Aronow BJ, Jegga AG, Wang N, Miethke A, Mourya R, et al. Novel resequencing chip customized to diagnose mutations in patients with inherited syndromes of intrahepatic cholestasis. Gastroenterology 2007;132: 119-126.
17. Balistreri WF. Inherited disorders of bile acid transport or synthesis. Gastroenterol Hepatol 2007;3: 343-345.
18. Roberts EA, Schilsky ML. Diagnosis and treatment of Wilson disease: An update. Hepatology 2008;47: 2089-2111.
19. El-Hattab AW, Scaglia F, Craigen WJ, Wong LJC. In: Pagon RA, Adam MP, Bird TD, Dolan CR, Fong CT, Stephens K, editors. MPV17-related hepatocerebral mitochondrial DNA depletion syndrome. Seattle, WA: GeneReviews; 1993.
20. Zischka H, Lichtmannegger J, Schmitt S, Jagemann N, Schulz S, Wartini D, et al. Liver mitochondrial membrane crosslinking and destruction in a rat model of Wilson disease. J Clin Invest 2011;121: 1508-1518.
21. Gu M, Cooper JM, Butler P, Walker AP, Mistry PK, Dooley JS, et al. Oxidativephosphorylation defects in liver of patients with Wilson's disease. Lancet 2000;356: 469-474.
22. Mansouri A, Gaou I, Fromenty B, Berson A, Letteron P, Degott C, et al. Premature oxidative aging of hepatic mitochondrial DNA in Wilson's disease. Gastroenterology 1997;113: 599-605.
23. Calvo SE, Compton AG, Hershman SG, Lim SC, Lieber DS, Tucker EJ, et al. Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing. Sci Transl Med 2012;4: 118ra110.
24. Goldstein DB, Allen A, Keebler J, Margulies EH, Petrou S, Petrovski S, et al. Sequencing studies in human genetics: Design and interpretation. Nat Rev Genet 2013;14: 460-470.
25. Turnpenny PD, Ellard S. Alagille syndrome: Pathogenesis, diagnosis and management. Eur J Hum Genet 2012;20: 251-257.
26. Kamath BM, Bauer RC, Loomes KM, Chao G, Gerfen J, Hutchinson A, et al. NOTCH2 mutations in Alagille syndrome. J Med Genet 2012;49: 138-144.
27. Vozzi D, Licastro D, Martelossi S, Athanasakis E, Gasparini P, Fabretto A. Alagille syndrome: A new missense mutation detected by whole-exome sequencing in a case previously found to be negative by DHPLC and MLPA. Mol Syndromol 2013;4: 207-210.
28. Erickson RP. Mouse models of human genetic disease: Which mouse is more like a man? BioEssays: News and reviews in molecular. Cell Dev Biol 1996;18: 993-998.