The genetics and ocular findings of Alagille syndrome

Seminars in Ophthalmology

Volumn 22, Issue 4, 2007, Pages 205-210

  Kim, Ben J ^a,c   Fulton, Anne B ^b  

^a HARVARD MEDICAL SCHOOL   (United States)

^b BOSTON CHILDREN S HOSPITAL   (United States)

^c MASSACHUSETTS EYE AND EAR INFIRMARY   (United States)

Author keywords

Alagille; JAG1; Notch; Posterior embryotoxon

Indexed keywords

JAGGED1;

ALAGILLE SYNDROME; ANTERIOR EYE SEGMENT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL FEATURE; DRUSEN; EYE DISEASE; EYE EXAMINATION; GENE; GENE IDENTIFICATION; GENE MUTATION; GENETIC ANALYSIS; GENOTYPE PHENOTYPE CORRELATION; HUMAN; JAG1 GENE; OPTIC DISK; OPTIC NERVE; POSTERIOR EYE CHAMBER; PRIORITY JOURNAL; RETINA BLOOD VESSEL; RETINOPATHY; SIGNAL TRANSDUCTION; VISUAL FIELD;

ALAGILLE SYNDROME; ANTERIOR EYE SEGMENT; CALCIUM-BINDING PROTEINS; EYE ABNORMALITIES; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; LIGANDS; MEMBRANE PROTEINS; MUTATION; OPTIC DISK; RECEPTOR, NOTCH1; RETINITIS PIGMENTOSA; SIGNAL TRANSDUCTION;

EID: 37549035468     PISSN: 08820538     EISSN: 17445205     Source Type: Journal    
DOI: 10.1080/08820530701745108     Document Type: Article

References (30)

1. Watson GH, Miller V. Arteriohepatic dysplasia. Familial pulmonary artery stenosis with neonatal liver disease. Arch Dis Child 1973; 48:459-66.
2. Alagille D, Odievre M, Gautier M, et al. Hepatic ductular hypoplasia associated with characteristic facies, vertebral malformations, retarded physical, mental, and sexual development, and cardiac murmur. J Pediatr 1975; 86:63-71.
3. 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.
4. Riely CA, Cotlier E, Jensen PS. Arteriohepatic dysplasia: A benign syndrome of intrahepatic cholestasis with multiple organ involvement. Ann Intern Med 1979; 91:520-7.
5. Krantz ID, Piccoli DA, Spinner NB. Alagille syndrome. J Med Genet 1997; 34:152-7.
6. Oda T, Elkahloun AG, Pike BL. Mutations in the human Jagged1 gene are responsible for Alagille syndrome. Nat Genet 1997; 16:235-42.
7. Spinner NB, Colliton RP, Crosnier C, et al. Jagged1 mutations in Alagille syndrome. Hum Mutat 2001; 17(1):18-33.
8. Boyer J, Crosnier C, Driancourt C, et al. Expression of mutant JAGGED1 alleles in patients with Alagille syndrome. Hum Genet 2005; 116:445-53.
9. Gridley T. Notch signaling and inherited disease syndromes. Hum Mol Genet 2003; 12:SpecNo1:R9-13.
10. Li L, Milner LA, Deng Y, et al. The human homolog of rat Jagged1 expressed by marrow stroma inhibits differentiation of 32D cells through interaction with Notch1. Immunity 1998; 8:43-55.
11. Bao Z, Cepko CL. The expression and function of Notch pathway genes in the developing rat eye. J Neurosci 1997; 17(4):1425-34.
12. Bray SJ. Notch signaling: a simple pathway becomes complex. Nat Rev Mol Cell Biol 2006; 7:678-89.
13. Xue Y, Gao X, Lindsell CE. Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1. Hum Molec Genet 1999; 8:723-30.
14. McCright B, Lozier J, Gridley T. A mouse model of Alagille syndrome: Notch2 as a genetic modifier of Jag1 haploinsufficiency. Development 2002; 129:1075-82.
15. Heitzler P, Simpson P. The choice of cell fate in the epidermis of drosophila. Cell 1991; 64:1083-92.
16. 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; 79:169-73.
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. Wells KK, Pulido JS, Judisch GF, et al. Ophthalmic features of Alagille syndrome (arteriohepatic dysplasia). J Pediatr Ophthalmol Strabismus 1993; 30:130-5.
19. Hingorani M, Nischal KK, Davies A, et al. Ocular abnormalities in Alagille syndrome. Ophthalmology 1999; 106:330-7.
20. Romanchuk KG, Judisch GF, LaBrecque DR. Ocular findings in arteriohepatic dysplasia (Alagille's syndrome). Can J Ophthalmol 1981; 16:94-9.
21. Puklin JE, Riely CA, Simon RM, et al. Anterior segment and retinal pigmentary abnormalities in arteriohepatic dysplasia. Ophthalmology 1981; 88:337-47.
22. Brodsky MC, Cunniff C. Ocular anomalies in the Alagille syndrome (arteriohepatic dysplasia). Ophthalmology 1993; 100:1767-74.
23. Waring GO, Rodrigues MM, Laibson PR. Anterior chamber cleavage syndrome. A stepladder classification. Surv Ophthalmol 1975; 20(1):3-27.
24. Traboulsi EI, Lustbader JM, Lemp MA. Keratoconus in Alagille's syndrome. Am J Ophthalmol 1989; 108:332-3.
25. Nischal KK, Hingorani M, Bentley CR, et al. Ocular ultrasound in Alagille syndrome: a new sign. Ophthalmology 1997; 104:79-85.
26. Narula P, Gifford J, Steggall MA, et al. Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome. J Pediatr Gastroenterol Nutr 2006; 43:348-52.
27. Fea A, Grosso A, Rabbione M, et al. Alagille syndrome and optic pit. Graefes Arch Clin Exp Ophthalmol 2007; 245(2):315-7.
28. Kamath BM, Spinner NB, Emerick KM, et al. Vascular anomalies in Alagille syndrome: A significant cause of morbidity and mortality. Circulation 2004; 109:1354-8.
29. Johnson BL. Ocular pathologic features of arteriohepatic dysplasia (Alagille's syndrome). Am J Ophthalmol 1990; 110:504-12.
30. Tanino T, Ishihara A, Naganuma K, et al. Electrophysiological findings in a family with congenital arteriohepatic dysplasia (Alagille syndrome). Doc Ophthalmol 1986; 63:83-9.