Clinical and molecular genetics of Alagille syndrome

Current Opinion in Pediatrics

Volumn 11, Issue 6, 1999, Pages 558-564

  Krantz, Ian D ^a   Piccoli, David A ^a   Spinner, Nancy B ^a  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALAGILLE SYNDROME; ARTICLE; BILE DUCT ATRESIA; CELL FATE; CLINICAL FEATURE; FACIES; FALLOT TETRALOGY; GENE DELETION; GENETIC LINKAGE; HUMAN; MISSENSE MUTATION; PATENT DUCTUS ARTERIOSUS; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; PULMONARY VALVE STENOSIS; RNA SPLICING;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CHILD; EYE DISEASES; GENE DELETION; HEART DISEASES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE PROTEINS; MUTATION; PROTEINS; SIGNAL TRANSDUCTION;

EID: 0032756620     PISSN: 10408703     EISSN: None     Source Type: Journal    
DOI: 10.1097/00008480-199912000-00015     Document Type: Article

References (47)

1. Birnbaum A, Suchy FJ: The intrahepatic cholangiopathies. Semin Liver Dis 1998, 18:263-269.
2. Alagille D, Estrada A, Hadchouel M, Gautier M, Odievre M, Dommergues JP: Syndromic paucity of interlobular bile ducts. J Pediatr 1987, 110:195-200.
3. Emerick KM, Rand EB, Goldmuntz E, Krantz ID, Spinner NB, Piccoli DA: Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999, 29:822-829. •• This study provides a comprehensive clinical review of the largest group of patients with AGS studied to date.
4. Danks DM, Campbell PE, Jack I, Rogers J, Smith AL: Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 1977, 52:360-367.
5. Krantz ID, Piccoli DA, Spinner NB: Alagille syndrome (syndrome of the month). J Med Genet 1997, 34:152-157.
6. Li L, Krantz ID, Den Y, Genin A, Banta AB, Collins CG, et al.: Alagille syndrome is caused by mutations in human Jagged1, which encodes a ligand for Notch1. Nat Genet 1997, 16:243-251.
7. Oda T, Elkahloun AG, Pike BL, Okajima K, Krantz ID, Genin A, et al.: Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997, 16:235-242.
8. Krantz ID, Colliton RP, Genin A, Rand EB, Li L, Piccoli DA, Spinner NB: Spectrum and frequency of Jagged1 (JAG1) mutations in Alagille syndrome patients and their families. Am J Hum Genet 1998, 62:1361-1369. • Molecular analysis in a large cohort of patients provides an overview of the wide spectrum of mutations and the lack of genotype-phenotype correlation in AGS.
9. Crosnier C, Driancourt C, Raynaud N, Dhorne-Pollet S, Pollet N, Bernard O, et al.: Analysis of mutations of the Jagged1 gene in patients with Alagille syndrome: evidence for most cases being sporadic. Gastroenterology 1999, 116:1141-1148. • Molecular analysis in a large cohort of patients demonstrates high frequency of new mutations.
10. Alagille D, Odievre M, Gautier M, Dommergues JP: Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental and sexual development and cardiac murmur. J Pediatr 1975, 86:63-71.
11. Krantz ID, Rand EB, Genin A, Hunt P, Jones M, Louis AA, et al.: Deletions of 20p12 in Alagille syndrome: frequency and molecular characterization. Am J Med Genet 1997, 70:80-86.
12. Rand EB, Spinner NB, Piccoli DA, Whitington PF, Taub R: Molecular analysis of 24 Alagille syndrome families identifies a single submicroscopic deletion and further localizes the Alagille syndrome region within 20p12. Am J Hum Genet 1995, 57:1068-1073.
13. Greenwood RD, Rosenthal A, Crocker AC, Nadas AS: Syndrome of intrahepatic biliary dysgenesis and cardiovascular malformations. Pediatrics 1976, 58:243-247.
14. Henriksen NT, Langmark F, Sorland SJ, Fausa O, Landaas S, Aagenaes O: Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies. Acta Paediatr Scand 1977, 66:7-15.
15. Gurkan A, Emre SU, Fishbein TM, Brady L, Millis M, Birnbaum A, et al.: Unsuspected bile duct paucity in donors for living-related liver transplantation: two case reports. Transplantation 1999, 67:416-418.
16. Novotny NM, Zetterman RK, Antonson DL, Vanderhoof JA: Variation in liver histology in Alagille's syndrome. Am J Gastroenterol 1981, 75:449-450.
17. Tzakis AG, Reyes J, Tepetes K, Tzoracoleftherakis V, Todo S, Starzl TE: Liver transplantation for Alagille's syndrome. Liver Transpl 1993, 128:337-339.
18. Deprettere A, Portman B, Mowat A: Syndromic paucity of the intrahepatic bile ducts: diagnostic difficulty; severe morbidity throughout early childhood. J Pediatr Gastroenterol Nutr 1987, 6:865-871.
19. Silberbach M, Lashley D, Relier MD, Kinn WF, Terry A, Sunderland CO: Arteriohepatic dysplasia and cardiovascular malformations. Am Heart J 1994, 127:695-699.
20. Puklin JE, Riely CA, Simon RM, Cotlier E: Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia. Ophthalmology 1981, 88:337-347.
21. Hingorani M, Nischal KK, Davies A, Bentley C, Vivian A, Baker AJ, et al.: Ocular abnormalities in Alagille syndrome. Ophthalmology 1999, 106:330-337.
22. Waring GO, Rodrigues MM, Laibson PR: Anterior chamber cleavage syndrome: a stepladder classification. Surv Ophthalmol 1975, 20:3-27.
23. Nischal KK, Hingorani M, Bentley CR, Vivian AJ, Bird AC, Baker AJ, et al.: Ocular ultrasound in Alagille syndrome. Ophthalmology 1997,104:79-85.
24. Rosenfield NS, Kelley MJ, Jensen PS, Cotlier E, Rosenfield AT, Riely CA: Arteriohepatic dysplasia: radiologic features of a new syndrome. Am J Radiol 1980, 135:1217-1223.
25. Watson GH, Miller V: Arteriohepatic dysplasia. Familial pulmonary arterial stenosis with neonatal liver disease. Arch Dis Child 1973, 48:459-466.
26. Sokol RJ, Heubi JE, Balistreri WF: Intrahepatic "cholestasis facies": is it specific for Alagille syndrome? J Pediatr 1983, 103:205-208.
27. LaBrecque DR, Mitros FA, Nathan RJ, Romanchuk KG, Judisch GF, El-Khoury GH: Four generations of arteriohepatic dysplasia. Hepatology 1982, 2:467-474.
28. Tolia V, Dubois RS, Watts FB, Perrin E: Renal abnormalities in paucity of interlobular bile ducts. J Pediatr Gastroenterol Nutr 1987, 6:971-976.
29. Hoffenberg EJ, Narkewicz MR, Sondheimer JM, Smith DJ, Silverman A, Sokol RJ: Outcome of syndromic paucity of interlobular bile ducts (Alagille syndrome) with onset of cholestasis in infancy. J Pediatr 1995, 127:220-224.
30. Berard E, Sarles J, Triolo V, Gagnadoux MF, Wernert F, Hadchouel M, Niaudet P: Renovascular hypertension and vascular anomalies in Alagille syndrome. Pediatr Nephrol1998, 12:121-124.
31. Shefler AG, Chan MKH, Ostman-Smith IO: Middle aortic syndrome in a boy with arteriohepatic dysplasia (Alagille syndrome). Pediatr Cardiol 1997, 18:232-234.
32. Rachmel A, Zeharia A, Neuman-Levin M, Weitz R, Shamir R, Dinari G: Alagille syndrome associated with Moyamoya disease. Am J Med Genet 1989, 33:89-91.
33. Woolfenden AR, Albers GW, Steinberg GK, Hahn JS, Johston DCC, Farrell K: Moyamoya syndrome in children with Alagille syndrome: additional evidence of a vasculopathy. Pediatrics 1998, 103:505-508.
34. Shulman SA, Hyams JS, Gunta R, Greenstein RM, Cassidy SB: Arteriohepatic dysplasia (Alagille syndrome): extreme variability among affected family members. Am J Med Genet 1984, 19:325-332.
35. Dhorne-Pollet S, Deleuze JF, Hadchouel M, Bonaiti-Pellie C: Segregation analysis of Alagille syndrome. J Med Genet 1994, 31:453-457.
36. Spinner NB, Rand EB, Fortina P, Genin A, Taub R, Semeraro A, Piccoli DA: Cytologically balanced t(2;20) in a two-generation family with Alagille syndrome: cytogenetic and molecular studies. Am J Hum Genet 1994, 55:238-243.
37. Byrne JLB, Harrod MJE, Friedman JM, Howard-Peebles PN: Del(20p) with manifestations of arteriohepatic dysplasia. Am J Med Genet 1986, 24:673-678.
38. Anad F, Burn J, Matthews D, Cross I, Davison BCC, Mueller R, et al.: Alagille syndrome and deletion of 20p. J Med Genet 1990, 27:729-737.
39. Artavanis-Tsakonas S, Rand MD, Lake RJ: Notch signaling: cell fate control and signal integration in development. Science 1999, 284:770-776. •• This is a concise review of the very complex Notch signaling pathway.
40. Ellison LW, Bird J, West DC, Soreng AL, Reynolds TC, Smith SD, Sklar J: TAN-1, the human homolog of the Drosophila Notch gene, is broken by chromosomal translocations in T lymphoblastic neoplasms. Cell 1991, 66:649-661.
41. Joutel A, Vahedi K, Corpechot C, Troesch A, Chabriat H, Vayssiere C, et al.: Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients. Lancet 1997, 350:1511-1515.
42. Lindsell CE, Shawber DJ, Boulter J, Weinmaster G: Jagged: a mammalian ligand that activates Notch1. Cell 1995, 80:909-917.
43. Rebay I, Fleming RJ, Fehon RG, Cherbas L, Cherbas P, Artavanis-Tsakonas S: Specific EGF repeats of Notch mediate interactions with Delta and Serrate: implications for Notch as a multifunctional receptor. Cell 1991, 67:687-699.
44. Yuan ZR, Zohsaka T, Ikegaya T, Suzuki T, Okano S, Abe J, et al.: Mutational analysis of the Jagged1 gene in Alagille syndrome families. Hum Mol Genet 1998, 7:1363-1369.
45. Wilkie AOM: The molecular basis of genetic dominance. J Med Genet 1994, 31:89-98.
46. Sun X, Artavanis-Tsakonas S: The intracellular deletions of Delta and Serrate define dominant negative forms of the Drosophila Notch ligands. Development 1996, 122:2465-2474.
47. Krantz ID, Smith R, Colliton RP, Tinkel H, Zackai EH, Piccoli DA, et al.: Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet 1999, 84:56-60. • This report of two patients provides evidence that a JAG1 mutation can present as congenital heart disease without other overt clinical evidence of other clinical manifestations of AGS.