Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome

American Journal of Medical Genetics, Part A

Volumn 152, Issue 8, 2010, Pages 2099-2102

  Bartsch, Oliver ^a   Schneider, Eberhard ^a,b   Damatova, Natalja ^a,b   Weis, Roger ^c   Tufano, Maria ^d   Iorio, Raffaele ^d   Ahmed, Alischo ^e   Beyer, Vera ^a   Zechner, Ulrich ^a   Haaf, Thomas ^a,b  

^a JOHANNES GUTENBERG UNIVERSITY   (Germany)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c Kinderneurologisches Zentrum   (Germany)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

Author keywords

22q13.3 deletion syndrome; Fulminant hepatic failure; Liver transplantation; PIM3; PPARA; SHANK3 PROSAP2

Indexed keywords

ARTICLE; AUTOIMMUNE HEPATITIS; BRD1 GENE; CASE REPORT; CATCH UP GROWTH; CHILD; CHROMOSOME 22Q13.3 DELETION SYNDROME; CHROMOSOME DELETION; COMPARATIVE GENOMIC HYBRIDIZATION; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EMERGENCY SURGERY; FEMALE; GENE; GENE DELETION; HUMAN; KARYOTYPE; KARYOTYPE 46,XX; LIVER FAILURE; LIVER FUNCTION TEST; LIVER TRANSPLANTATION; MICROARRAY ANALYSIS; NUP50 GENE; PIM3 GENE; PRIORITY JOURNAL; PROSAP2 GENE; RABL2B GENE; SHANK3 GENE; SPEECH DISORDER;

CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LIVER FAILURE, ACUTE; LIVER TRANSPLANTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SYNDROME;

EID: 77955297113     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33542     Document Type: Article

References (21)

1. Akkiz H. 2008. Hepatocellular carcinoma pathogenesis: Does PPAR alpha polymorphism have a role in hepatocarcinogenesis associated with HBV and HCV infections? Turk J Gastroenterol 19:231-233.
2. Alvarez F, Berg PA, Bianchi FB, Bianchi L, Burroughs AK, Cancado EL, Chapman RW, Cooksley WG, Czaja AJ, Desmet VJ, Donaldson PT, Eddleston AL, Fainboim L, Heathcote J, Homberg JC, Hoofnagle JH, Kakumu S, Krawitt EL, Mackay IR, MacSween RN, Maddrey WC, Manns MP, McFarlane IG, Meyer zum Büschenfelde KH, Zeniya M. 1999. International Autoimmune Hepatitis Group Report: Review of criteria for diagnosis of autoimmune hepatitis. J Hepatol 31:929-938.
3. Anderlid BM, Schoumans J, Annerén G, Tapia-Paez I, Dumanski J, Blennow E, Nordenskjöld M. 2002. FISH-mapping of a 100-kb terminal 22q13 deletion. Hum Genet 110:439-443. (Pubitemid 36074989)
4. Cohen D, Pichard N, Tordjman S, Baumann C, Burglen L, Excoffier E, Lazar G, Mazet P, Pinquier C, Verloes A, Héron D. 2005. Specific genetic disorders and autism: Clinical contribution towards their identification. J Autism Dev Disord 35:103-116. (Pubitemid 40883082)
5. Djouadi F, Weinheimer CJ, Saffitz JE, Pitchford C, Bastin J, Gonzalez FJ, Kelly DP. 1998. A gender-related defect in lipid metabolism and glucose homeostasis in peroxisome proliferator-activated receptor alpha-deficient mice. J Clin Invest 102:1083-1091. (Pubitemid 28436268)
6. Durand CM, Betancur C, Boeckers TM, Bockmann J, Chaste P, Fauchereau F, Nygren G, Rastam M, Gillberg IC, Anckarsäter H, Sponheim E, Goubran-Botros H, Delorme R, Chabane N, Mouren-Simeoni MC, de Mas P, Bieth E, Rogé B, Héron D, Burglen L, Gillberg C, Leboy M, Bourgeron T. 2007. Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders. Nat Genet 39:25-27.
7. Eron L, Hirsch MS, Kosinski K. 1976. Hepatitis in an adult caused by Herpes simplex virus type I. Gastroenterology 71:500-504.
8. Fujii C, Nakamoto Y, Lu P, Tsuneyama K, Popivanova BK, Kaneko S, Mukaida N. 2005. Aberrant expression of serine/threonine kinase Pim-3 in hepatocellular carcinoma development and its role in the proliferation of human hepatoma cell lines. Int J Cancer 114:209-218. (Pubitemid 40194286)
9. Havens JM, Visootsak J, Phelan MC, Graham JM Jr. 2004. 22q13 deletion syndrome: An update and review for the primary pediatrician. Clin Pediatr (Phila) 43:43-53. (Pubitemid 38112265)
10. Liu LM, Zhang JX, Wang XP, Guo HX, Deng H, Luo J. 2010. Pim-3 protects against hepatic failure in D-galactosamine (D-GalN)-sensitized rats. Eur J Clin Invest 40:127-138.
11. Luciani JJ, de Mas P, Depetris D, Mignon-Ravix C, Bottani A, Prieur M, Jonveaux P, Philippe A, Bourrouillou G, de Martinville B, Delobel B, Vallee L, Croquette MF, Mattei MG. 2003. Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: Cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet 40:690-696.
12. Meerbach A, Sauerbrei A, Meerbach W, Bittrich HJ, Wutzler P. 2006. Fatal outcome of herpes simplex virus type 1-induced necrotic hepatitis in a neonate. Med Microbiol Immunol 195:101-105. (Pubitemid 43742473)
13. Mikkers H, Nawijn M, Allen J, Brouwers C, Verhoeven E, Jonkers J, Berns A. 2004. Mice deficient for all PIM kinases display reduced body size and impaired responses to hematopoietic growth factors. Mol Cell Biol 24:6104-6115. (Pubitemid 38787993)
14. Nesslinger NJ, Gorski JL, Kurczynski TW, Shapira SK, Siegel-Bartelt J, Dumanski JP, Cullen RF Jr, French BN, McDermid HE. 1994. Clinical, cytogenetic, and molecular characterization of seven patients with deletions of chromosome 22q13.3. Am J Hum Genet 54:464-472. (Pubitemid 24068227)
15. Phelan MC, Rogers RC, Saul RA, Stapleton GA, Sweet K, McDermid H, Shaw SR, Claytor J, Willis J, Kelly DP. 2001. 22q13 deletion syndrome. Am J Med Genet 101:91-99.
16. Redecker P, Bockmann J, Böckers TM. 2006. Expression of postsynaptic density proteins of the ProSAP/Shank family in the thymus. Histochem Cell Biol 126:679-685. (Pubitemid 44899711)
17. Tufano M, Della Corte C, Cirillo F, Spagnuolo MI, Candusso M, Melis D, Torre G, Iorio R. 2009. Fulminant autoimmune hepatitis in a girl with 22q13 deletion syndrome: A previously unreported association. Eur J Pediatr 168:225-227.
18. Vohl MC, Lepage P, Gaudet D, Brewer CG, Bétard C, Perron P, Houde G, Cellier C, Faith JM, Després JP, Morgan K, Hudson TJ. 2000. Molecular scanning of the human PPARa gene: Association of the L162V mutation with hyperapobetalipoproteinemia. J Lipid Res 41:945-952. (Pubitemid 30434326)
19. Whitworth JR, Mack CL, O'Connor JA, Narkewicz MR, Mengshol S, Sokol RJ. 2006. Acute hepatitis and liver failure associated with influenza A infection in children. J Pediatr Gastroenterol Nutr 43:536-538. (Pubitemid 44569017)
20. Wilson HL, Wong AC, Shaw SR, Tse WY, Stapleton GA, Phelan MC, Hu S, Marshall J, McDermid HE. 2003. Molecular characterisation of the 22q13 deletion syndrome supports the role of haploinsufficiency of SHANK3/PROSAP2 in the major neurological symptoms. J Med Genet 40:575-584. (Pubitemid 37046910)
21. Wu Y, Wang YY, Nakamoto Y, Li YY, Baba T, Kaneko S, Fujii C, Mukaida N. 2010. Accelerated hepatocellular carcinoma development in mice expressing the Pim-3 transgene selectively in the liver. Oncogene 29:2228-2237.