An autosomal recessive form of Alagille-like syndrome that is not linked to JAG1

Genetics in Medicine

Volumn 9, Issue 8, 2007, Pages 544-550

  Dyack, Sarah ^a   Cameron, Marianne ^b   Otley, Anthony ^a   Greer, Wenda ^a,c  

^a DALHOUSIE UNIVERSITY   (Canada)

^b DALHOUSIE UNIVERSITY   (Canada)

^c Capital District Health Authority   (Canada)

Author keywords

Alagille syndrome; Cholestasis; JAG1; Paucity of intrahepatic bile ducts

Indexed keywords

JAGGED1;

ALAGILLE SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CHILDHOOD; CHOLESTASIS; CLINICAL STUDY; GENE MUTATION; GENOTYPE; HEART DISEASE; HUMAN; INTRAHEPATIC BILE DUCT; LINKAGE ANALYSIS; MEDICAL RECORD REVIEW; MICROSATELLITE MARKER; PEDIGREE; PHENOTYPE; PULMONARY VALVE STENOSIS; QUESTIONNAIRE;

ALAGILLE SYNDROME; CALCIUM-BINDING PROTEINS; CHILD; FEMALE; GENES, RECESSIVE; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; PEDIGREE;

EID: 34548031198     PISSN: 10983600     EISSN: None     Source Type: Journal    
DOI: 10.1097/GIM.0b013e318133a802     Document Type: Article

References (21)

1. 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.
2. Piccoli DA, Witzleben CL. Disorders of the intrahepatic bile ducts. In: Walker WA, Durie PR, Hamilton JR, Walker-Smith JA, et al, editors. Pediatric gastrointestinal disease: pathophysiology, diagnosis, management, volume two. St. Louis: Mosby, 1996: 1362-1384.
3. Emerick KM, Rand EB, Goldmuntz E, Krantz ID, et al. Features of Alagille syndrome in 92 patients: frequency and relation to prognosis. Hepatology 1999;29:822-829.
4. Dhorne-Pollet S, Deleuze JF, Hadchouel M, Bonaiti-Pellie C. Segregation analysis of Alagille syndrome J Med Genet 1994;31:453-457.
5. Crosnier C, Attie-Bitach T, Encha-Razavi F, Audollent S, et al. JAGGED1 gene expression during human embryogenesis elucidates the wide phenotypic spectrum of Alagille syndrome. Hepatology 2000;32:574-581.
6. LaBrecque DR, Mitros FA, Nathan RJ, Romanchuk KG, et al. Four generations of arteriohepatic dysplasia. Hepatology 1982;2:467-474.
7. Yuan ZR, Kohsaka T, Ikegaya T, Suzuki T, et al. Mutational analysis of the Jagged 1 gene in Alagille syndrome families. Hum Mol Genet 1998;7:1363-1369.
8. Li L, Krantz ID, Deng Y, Genin A, et al. Alagille syndrome is caused by mutations in human Jagged 1, which encodes a ligand for Notch 1. Nat Genet 1997;16:243-151.
9. Spinner NB, Colliton RP, Crosnier C, Krantz ID, et al. Jagged 1 mutations in Alagille syndrome. Hum Mutat 2001;17:18-33.
10. Warthen DM, Moore EC, Kamath BM, Morrissette JJ, et al. Jagged 1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate. Hum Mutat 2006;27:436-443.
11. Artavanis-Tsakonas S. Alagille syndrome - a notch up for the Notch receptor. Nat Genet 1997;16:212-213.
12. Oda T, Elkahloun AG, Meltzer PS, Chandrasekharappa SC. Identification and cloning of the human homolog (JAG1) of the rat Jagged1 gene from the Alagille syndrome critical region at 20p12. Genomics 1997;43:376-379.
13. McDaniell R, Warthen DM, Sanchez-Lara PA, Pai A, et al. NOTCH2 mutations cause Alagille syndrome, a heterogeneous disorder of the notch signaling pathway. Am J Hum Genet 2006;79:169-173.
14. Kamath BM, Bason L, Piccoli DA, Krantz ID, et al. Consequences of JAG1 mutations. J Med Genet 2003;40:891-895.
15. Drouin E, Russo P, Tuchweber B, Mitchel G, et al. North American Indian cirrhosis in children: a review of 30 cases. J Pediatr Gastroenterol Nutr 2000;31:395-404.
16. Chagnon P, Michaud J, Mitchell G, Mercier J, et al. A missense and mutation (R565W) in Cirhin (FLJ14728) in North American Indian childhood cirrhosis. Am J Hum Genet 2002;71:1443-1449.
17. Robinson BH, Oei J, Sherwood WG, Applegarth D, et al. The molecular basis for the two different clinical presentations of classical pyruvate carboxylase deficiency. Am J Hum Genet 1984;36:283-294.
18. Gagnadoux MF, Bacri JL, Broyer M, Habib R. Infantile chronic tubulo-interstitial nephritis with cortical microcysts: variant of nephronophthisis or new disease entity? Pediatr Nephrol 1989:3: 50-55.
19. Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular basis of inherited disease, volume II, 8th ed. New York: McGraw-Hill, 2001:2359-2363.
20. Li PH, Shu SG, Yang CH, Lo FC, et al. Alagille syndrome with interstitial 20P deletion derived from maternal ins(7;20). Am J Med Genet 1996;63:537-541.
21. Madoff L. Elevated sweat chlorides and hypothyroidism. J Pediatr 73:244-246, 1968; Aug.