Alagille syndrome: Clinical perspectives

Application of Clinical Genetics

Volumn 9, Issue , 2016, Pages 75-82

  Saleh, Maha ^a   Kamath, Binita M ^b   Chitayat, David ^a,c  

^a UNIVERSITY OF TORONTO   (Canada)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c MOUNT SINAI HOSPITAL   (Canada)

Author keywords

Alagille syndrome; ALGS; Genetics; Liver

Indexed keywords

COLESTYRAMINE; JAGGED1; NALTREXONE; NOTCH2 RECEPTOR; RIFAMPICIN; URSODEOXYCHOLIC ACID;

ALAGILLE SYNDROME; BILIARY TRACT SURGERY; BONE DISEASE; CHOLESTASIS; CHROMOSOME 1P; CHROMOSOME 20P; CHROMOSOME DELETION Y; CLINICAL ASSESSMENT; CLINICAL FEATURE; CONGENITAL HEART DISEASE; DIAGNOSTIC TEST; EYE DISEASE; FACE DISORDER; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JAG1 GENE; KIDNEY DISEASE; LIVER BIOPSY; LIVER DISEASE; LIVER TRANSPLANTATION; MEDICAL HISTORY; MOLECULAR GENETICS; MOLECULAR PATHOLOGY; NEUROLOGIC DISEASE; NEUROVASCULAR MANIFESTATION; NOTCH2 GENE; PORTOENTEROSTOMY; PRACTICE GUIDELINE; PREGNANCY; PRURITUS; REVIEW; SYSTEMIC DISEASE; VASCULAR DISEASE;

EID: 84978645967     PISSN: None     EISSN: 1178704X     Source Type: Journal    
DOI: 10.2147/TACG.S86420     Document Type: Review

References (49)

1. Spinner N, Leonard L, Krantz I. Alagille syndrome. In: Pagon RA, Adam MP, Ardinger HH, et al.,editors. GeneReviews. Seattle, WA: University of Washington; 2013.
2. 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.
3. 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: 1361-1369.
4. Kamath BM, Podkameni G, Hutchinson AL, et al. Renal anomalies in Alagille syndrome: a disease-defining feature. Am J Med Genet A. 2012; 158A: 85-89.
5. Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012; 3: 251-257.
6. Guegan K, Stals K, Day M, Turnpenny P, Ellard S. JAG1 mutations are found in approximately one third of patients presenting with only one or two clinical features of Alagille syndrome. Clin Genet. 2012; 82: 33-40.
7. Kamath BM, Bason L, Piccoli DA, Krantz ID, Spinner NB. Consequences of JAG1 mutations. J Med Genet. 2003; 40: 891-895.
8. 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.
9. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: a significant cause of morbidity and mortality. Circulation. 2004; 109: 1354-1358.
10. Alessandro G, Incerti M, Andreani M. Alagille syndrome: prenatal sonographic findings. J Clin Ultrasound. 2007; 35 (3): 156-158.
11. Subramaniam P, Knisely A, Portmann B, et al. Diagnosis of Alagille syndrome-25 years of experience at King’s College Hospital. J Pediatr Gastroenterol Nutr. 2011; 52: 84-89.
12. Mouzaki M, Bass LM, Sokol RJ, Piccoli DA, Quammie C, Kamath BM. Early life predictive markers of liver disease outcome in an International, Multicentre Cohort of children with Alagille syndrome. Liver Int. Epub 2015 Jul 22.
13. McElhinney DB, Krantz ID, Bason L, et al. Analysis of cardiovascular phenotype and genotype-phenotype correlation in individuals with a JAG1 mutation and/or Alagille syndrome. Circulation. 2002; 106: 2567-2574.
14. Krantz ID, Smith R, Colliton RP, et al. Jagged1 mutations in patients ascertained with isolated congenital heart defects. Am J Med Genet. 1999; 84: 56-60.
15. Hingorani M, Nischal KK, Davies A, et al. Ocular abnormalities in Alagille syndrome. Ophthalmology. 1999; 106: 330-337.
16. Sanderson E, Newman V, Haigh SF, Baker A, Sidhu PS. Vertebral anomalies in children with Alagille syndrome: an analysis of 50 consecutive patients. Pediatr Radiol. 2002; 32: 114-119.
17. Zanotti S, Canalis E. Notch and the skeleton. Mol Cell Biol. 2012; 30: 886-896.
18. Kamath BM, Loomes KM, Oakey RJ, Krantz ID. Supernumerary digital flexion creases: an additional clinical manifestation of Alagille syndrome. Am J Med Genet. 2002; 112: 171-175.
19. Bales CB, Kamath BM, Munoz PS, et al. Pathologic lower extremity fractures in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010; 51: 66-70.
20. Lin HC, Hoang PL, Hutchinson A, et al. Alagille syndrome in a Vietnamese cohort: mutation analysis and assessment of facial features. Am J Med Genet A. 2012; 158A: 1005-1013.
21. Salem JE, Bruguiere E, Iserin L, Guiochon-Mantel A, Plouin PF. Hypertension and aortorenal disease in Alagille syndrome. J Hypertens. 2012; 30: 1300-1306.
22. Doberentz E, Kuchelmeister K, Madea B. Subarachnoid hemorrhage due to aneurysm rupture in a young woman with Alagille syndrome-a rare cause of sudden death. Leg Med (Tokyo). 2015; 17 (5): 309-312.
23. Arvay JL, Zemel BS, Gallagher PR, et al. Body composition of children aged 1 to 12 years with biliary atresia or Alagille syndrome. J Pediatr Gastroenterol Nutr. 2005; 40: 146-150.
24. Tilib Shamoun S, Le Friec G, Spinner N, Kemper C, Baker AJ. Immune dysregulation in Alagille syndrome: a new feature of the evolving phenotype. Clin Res Hepatol Gastroenterol. 2015; 39 (5): 566-569.
25. Ferrarese A, Senzolo M, Burra P. Successful pregnancy in Alagille Syndrome. Dig Liver Dis. 2015; 47 (1): 86-87.
26. Colliton RP, Bason L, Lu FM, Piccoli DA, Krantz ID, Spinner NB. Mutation analysis of Jagged1 (JAG1) in Alagille syndrome patients. Hum Mutat. 2001; 17: 151-152.
27. Ropke A, Kujat A, Graber M, Giannakudis J, Hansmann I. Identification of 36 novel Jagged1 (JAG1) mutations in patients with Alagille syndrome. Hum Mutat. 2003; 21: 100.
28. Kamath BM, Baur RC, Loomes KM, et al. NOTCH2 mutations in Alagille syndrome. J Med Genet. 2012; 49 (2): 138-144.
29. McDaniell R, Warthen DM, Sanchez-Lara PA, et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet. 2006; 79: 169-173.
30. Kamath BM, Thiel BD, Gai X, et al. SNP array mapping of chromosome 20p deletions: genotypes, phenotypes, and copy number variation. Hum Mutat. 2009; 30 (3): 371-378.
31. Spinner NB, Colliton RP, Crosnier C, et al. Jagged1 mutations in Alagille syndrome. Hum Mutat. 2001; 17: 18-33.
32. Crosnier C, Driancourt C, Raynaud N, et al. Mutations in JAGGED1 gene are predominantly sporadic in Alagille syndrome. Gastroenterology. 1999; 116: 1141-1148.
33. Eldadah ZA, Hamosh A, Biery NJ, et al. Familial Tetralogy of Fallot caused by mutation in the jagged1 gene. Hum Mol Genet. 2001; 10: 163-169.
34. Le Caignec C, Lefevre M, Schott JJ, et al. Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1. Am J Hum Genet. 2002; 71: 180-186.
35. Kamath BM, Loomes KM, Piccoli DA. Medical management of Alagille syndrome. J Pediatr Gastroenterol Nutr. 2010; 50: 580-586.
36. Emerick KM, Whitington PF. Partial external biliary diversion for intractable pruritus and xanthomas in Alagille syndrome. Hepatology. 2002; 35: 1501-1506.
37. Mattei P, von Allmen D, Piccoli D, Rand E. Relief of intractable pruritus in Alagille syndrome by partial external biliary diversion. J Pediatr Surg. 2006; 41: 104-107.
38. Sheflin-Findling S, Arnon R, Lee S, et al. Partial internal biliary diversion for Alagille syndrome: case report and review of the literature. J Pediatr Surg. 2012; 47: 1453-1456.
39. Pawlowska J, Socha P, Jankowska I. Factors affecting catch-up growth after liver transplantation in children with cholestatic liver diseases. Ann Transplant. 2010; 15: 72-76.
40. Kamath BM, Yin W, Miller H, et al. Studies of pediatric liver transplantation. Outcomes of liver transplantation for patients with Alagille syndrome: the studies of pediatric liver transplantation experience. Liver Transpl. 2012; 18: 940-948.
41. Baird LC, Smith ER, Ichord R, et al. Moyamoya syndrome associated with Alagille syndrome: outcome after surgical revascularization. J Pediatr. 2015; 166 (2): 470-473.
42. Laufer-Cahana A, Krantz ID, Bason LD, Lu FM, Piccoli DA, Spinner NB. Alagille syndrome inherited from a phenotypically normal mother with a mosaic 20p microdeletion. Am J Med Genet. 2002; 112: 190-193.
43. Giannakudis J, Ropke A, Kujat A, et al. Parental mosaicism of JAG1 mutations in families with Alagille syndrome. Eur J Hum Genet. 2001; 9: 209-216.
44. Witt H, Neumann LM, Grollmuß O, Luck W, Becker M. Prenatal diagnosis of Alagille syndrome. J Pediatric Gastroenetrology Nutr. 2004; 38 (1): 105-106.
45. Albayram F, Stone K, Nagey D, Schwarz KB, Blakemore K. Alagille syndrome: prenatal diagnosis and pregnancy outcome. Fetal Diagn Ther. 2002; 17 (3): 182-184.
46. Herr F, Schreiner I, Baal N, Pfarrer C, Zygmunt M. Expression patterns of Notch receptors and their ligands Jagged and Delta in human placenta. Placenta. 2011; 32 (8): 554-563.
47. Rahmoune FC, Bruyère M, Tecsy M, Benhamou D. Alagille syndrome and pregnancy: anesthetic management for cesarean section. Int J Obstet Anesth. 2011; 20 (4): 355-358.
48. Maisonneuve E, Morin F, Crochetière C, et al. Multidisciplinary management of a hepatic and renal transplant patient with Alagille syndrome. Int J Obstet Anesth. 2012; 21 (4): 382-383.
49. Jung C, Driancourt C, Baussan C, et al. Prenatal molecular diagnosis of inherited cholestatic diseases. J Pediatr Gastroenterol Nutr. 2007; 44 (4): 453-458.