Prenatal molecular diagnosis of inherited cholestatic diseases

Journal of Pediatric Gastroenterology and Nutrition

Volumn 44, Issue 4, 2007, Pages 453-458

  Jung, Camille ^a   Driancourt, Catherine ^b   Baussan, Christiane ^a   Zater, Mokhtar ^a   Hadchouel, Michelle ^a,b   Meunier Rotival, Michèle ^b   Guiochon Mantel, Anne ^a   Jacquemin, Emmanuel ^a,b  

^a BICÊTRE HOSPITAL   (France)

^b INSERM   (France)

Author keywords

Alagille syndrome; Antenatal molecular diagnosis; Genetic cholestasis; Progressive familial intrahepatic cholestasis; Transient neonatal cholestasis

Indexed keywords

DNA; JAGGED1;

ALAGILLE SYNDROME; AMNION CELL; ARTICLE; CHORION VILLUS SAMPLING; CONTROLLED STUDY; DISEASE CLASSIFICATION; DNA DETERMINATION; DNA ISOLATION; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; FETUS; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; INTRAHEPATIC CHOLESTASIS; INTRAHEPATIC CHOLESTASIS TYPE 1; INTRAHEPATIC CHOLESTASIS TYPE 2; INTRAHEPATIC CHOLESTASIS TYPE 3; MALE; PREGNANT WOMAN; PREMATURITY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL;

ALAGILLE SYNDROME; CHOLESTASIS, INTRAHEPATIC; CHORIONIC VILLI SAMPLING; DNA; FEMALE; GENETIC COUNSELING; HUMANS; MUTATION; PREGNANCY;

EID: 34147109318     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/MPG.0b013e318036a569     Document Type: Article

References (33)

1. van Mil SW, Houwen RH, Klomp LW. Genetics of familial intrahepatic cholestasis syndromes. J Med Genet 2005;42:449-63.
2. Bull LN, van Eijk MJ, Pawlikowska L, et al. A gene encoding a P-type ATPase mutated in two forms of hereditary cholestasis. Nat Genet 1998;18:219-24.
3. van Mil SW, Klomp LW, Bull LN, et al. FIC1 disease: a spectrum of intrahepatic cholestatic disorders. Semin Liver Dis 2001;21:535-44.
4. Klomp LW, Vargas JC, van Mil SW, et al. Characterization of mutations in ATP8B1 associated with hereditary cholestasis. Hepatology 2004;40:27-38.
5. Strautnieks SS, Bull LN, Knisely AS, et al. A gene encoding a liver-specific ABC transporter is mutated in progressive familial intrahepatic cholestasis. Nat Genet 1998;20:233-8.
6. Thompson R, Strautnieks S. BSEP: function and role in progressive familial intrahepatic cholestasis. Semin Liver Dis 2001;21:545-50.
7. Jacquemin E, De Vree JM, Cresteil D, et al. The wide spectrum of multidrug resistance 3 deficiency: from neonatal cholestasis to cirrhosis of adulthood. Gastroenterology 2001;120:1448-58.
8. Jacquemin E. Role of multidrug resistance 3 deficiency in pediatric and adult liver disease: one gene for three diseases. Semin Liver Dis 2001;21:551-62.
9. Alagille D, Estrada A, Hadchouel M, et al. Syndromic paucity of interlobular bile ducts (Alagille syndrome or arteriohepatic dysplasia): review of 80 cases. J Pediatr 1987;110:195-200.
10. Emerick KM, Rand EB, Goldmuntz E, et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999;29:822-9.
11. Lykavieris P, Hadchouel M, Chardot C, et al. Outcome of liver disease in children with Alagille syndrome: a study of 163 patients. Gut 2001;49:431-5.
12. Li L, Krantz ID, Deng Y, et al. Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997;16:243-51.
13. Oda T, Elkahloun AG, Pike BL, et al. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997;16:235-42.
14. Krantz ID, Colliton RP, Genin A, et al. Spectrum and frequency of jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet 1998;62:1361-9.
15. Crosnier C, Driancourt C, Raynaud N, et al. Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology 1999;116:1141-8.
16. Spinner NB, Colliton RP, Crosnier C, et al. Jagged1 mutations in alagille syndrome. Hum Mutat 2001;17:18-33.
17. Kamath BM, Krantz ID, Spinner NB, et al. Monozygotic twins with a severe form of Alagille syndrome and phenotypic discordance. Am J Med Genet 2002;112:194-7.
18. Laufer-Cahana A, Krantz ID, Bason LD, et al. Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion. Am J Med Genet 2002;112:190-3.
19. Dhorne-Pollet S, Deleuze JF, Hadchouel M, et al. Segregation analysis of Alagille syndrome. J Med Genet 1994;31:453-7.
20. Giannakudis J, Ropke A, Kujat A, et al. Parental mosaicism of JAG1 mutations in families with Alagille syndrome. Eur J Hum Genet 2001;9:209-16.
21. Albayram F, Stone K, Nagey D, et al. Alagille syndrome: prenatal diagnosis and pregnancy outcome. Fetal Diagn Ther 2002;17:182-4.
22. Witt H, Neumann LM, Grollmuss O, et al. Prenatal diagnosis of Alagille syndrome. J Pediatr Gastroenterol Nutr 2004;38:105-6.
23. Lykavieris P, van Mil S, Cresteil D, et al. Progressive familial intrahepatic cholestasis type 1 and extrahepatic features: no catch-up of stature growth, exacerbation of diarrhea, and appearance of liver steatosis after liver transplantation. J Hepatol 2003;39:447-52.
24. Van Mil SW, van der Woerd WL, van der Brugge G, et al. Benign recurrent intrahepatic cholestasis type 2 is caused by mutations in ABCB11. Gastroenterology 2004;127:379-84.
25. Boyer J, Crosnier C, Driancourt C, et al. Expression of JAGGED 1 alleles in patients with Alagille syndrome. Hum Genet 2005;116:445-53.
26. Rosmorduc O, Hermelin B, Boelle PY, et al. ABCB4 gene mutation-associated cholelithiasis in adults. Gastroenterology 2003;125:452-9.
27. Lucena JF, Herrero JI, Quiroga J, et al. A multidrug resistance 3 gene mutation causing cholelithiasis, cholestais of pregnancy, and adulthood biliary cirrhosis. Gastroenterology 2003;124:1037-42.
28. Van Ooteghem NA, Klomp LW, van Berge-Henegouwen GP, et al. Benign recurrent intrahepatic cholestasis progressing to progressive familial intrahepatic cholestasis: low GGT cholestasis is a clinical continuum. J Hepatol 2002;36:439-43.
29. Jacquemin E, Cresteil D, Manouvrier S, et al. Heterozygous nonsense mutation of the MDR3 gene in familial intrahepatic cholestasis of pregnancy. Lancet 1999;353:210-1.
30. Ganne-Carrié N, Baussan C, Grando V, et al. Progressive familial intrahepatic cholestasis type 3 revealed by oral contraceptive pills. J Hepatol 2003;38:693-4.
31. Hermeziu B, Sanlaville D, Girard M, et al. Heterozygous bile salt export pump deficiency: a possible genetic predisposition to transient neonatal cholestasis. J Pediatr Gastroenterol Nutr 2006;42:114-6.
32. Jacquemin E, Lykavieris P, Chaoui N, et al. Transient neonatal cholestasis: origin and outcome. J Pediatr 1998;133:563-7.
33. Meier Y, Pauli-Magnus C, Zanger UM, et al. Interindividual variability of canalicular ATP-binding-cassette (ABC)-transporter expression in human liver. Hepatology 2006;44:62-74.