Locus heterogeneity in progressive familial intrahepatic cholestasis

Journal of Medical Genetics

Volumn 33, Issue 10, 1996, Pages 833-836

  Strautnieks, Sandra S ^a   Kagalwalla, Amir F ^b   Tanner, M Smart ^c   Gardiner, R Mark ^a   Thompson, Richard J ^a  

^a ROYAL FREE AND UNIVERSITY COLLEGE MEDICAL SCHOOL   (United Kingdom)

^b KING FAHAD MEDICAL CITY   (Saudi Arabia)

^c SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

Author keywords

Cholestasis; Familial; Heterogeneity; Liver

Indexed keywords

ARTICLE; CHROMOSOME 18Q; CLINICAL ARTICLE; FEMALE; GENETIC HETEROGENEITY; GENETIC LINKAGE; HUMAN; INFANT; INTRAHEPATIC CHOLESTASIS; MALE; MARKER GENE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; SAUDI ARABIA;

EID: 0029989941     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.33.10.833     Document Type: Article

References (18)

1. Clayton RJ, Iber FL, Ruebner BH, McKusick VA. Byler's disease: fatal familial intrahepatic cholestasis in an Amish kindred. J Pediatr 1965;67:1025-8.
2. Nielsen IM, Ornvold K, Jacobsen BB, Ranek L. Fatal familial cholestatic syndrome in Greenland Eskimo children. Acta Paediatr Scand 1986;75:1010-16.
3. Jacquemin E, Setchell KD, O'Connell NC, et al. A new cause of progressive intrahepatic cholestasis: 3 beta-hydroxy-C27-steroid dehydrogenase/isomerase deficiency. J Pediatr 1994;125:379-84.
4. Whitington PF, Freese DK, Alonso EM, Schwarzenberg SJ, Sharp HL. Clinical and biochemical findings in progressive familial intrahepatic cholestasis. J Pediatr Gastroenterol Nutr 1994;18:134-41.
5. Maggiore G, Bernard O, Riely C, et al. Normal γ-glutamyl-transpeptidase activity identifies group of infants with poor prognosis. J Pediatr 1987;111:251-2.
6. Houwen RH, Baharloo S, Blankenship K, et al. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nature Genet 1994;8:380-6.
7. Carlton VE, Knisely AS, Freimer NB. Mapping of a locus for progressive familial intrahepatic cholestasis (Byler disease) to 18q21-q22, the benign recurrent intrahepatic cholestasis region. Hum Mol Genet 1995;4:1049-53.
8. Kruglyak L, Daly MJ, Lander ES. Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping. Am J Hum Genet 1995;56:519-27.
9. Hagenbuch B, Stieger B, Foguet M, Lubbert H, Meier PJ. Functional expression cloning and characterization of the hepatocyte Na+/bile acid cotransport system. Proc Natl Acad Sci USA 1991;88:10629-33.
10. Primmer M, Ziegler K. The transport of bile acids in liver cells. Biochim Biophys Acta 1988;947:75-99.
11. Inoue M, Kinne R, Tran T, Arias IM. Taurocholate transport by rat liver canalicular membrane vesicles. Evidence for the presence of an Na + -independent transport system. J Clin Invest 1984;73:659-63.
12. Weber AM, Tuchweber B, Yousef I, et al. Severe familial cholestasis in North American Indian children: a clinical model of microfilament dysfunction? Gastroenterology 1981;81:653-62.
13. Adler M, Chung KW, Schaffner F. Pericanalicular hepatocytic and bile ductular microfilaments in cholestasis in man. Am J Pathol 1980;98:603-16.
14. de Pagter AGF, van Berge Henegouwen GP, ten Bokkel Huinink JA, Brandt KH. Familial benign recurrent intrahepatic cholestasis. Interrelation with intrahepatic cholestasis of pregnancy and from oral contraceptives? Gastroenterology 1976;71:202-7.
15. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet 1994;8:98-103.
16. Lajeunie E, Wei Ma H, Bonaventure J, et al. FGFR2 mutations in Pfeiffer syndrome. Nature Genet 1995;9:108.
17. Rutland P, Pulleyn L, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genet 1995;9:173-6.
18. Muenke M, Schell U, Hehr A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nature Genet 1994;8:269-74.