CFC1 gene involvement in biliary atresia with polysplenia syndrome

Journal of Pediatric Gastroenterology and Nutrition

Volumn 46, Issue 1, 2008, Pages 111-112

  Davit Spraul, Anne ^a   Baussan, Christiane ^a   Hermeziu, Bogdan ^a   Bernard, Olivier ^a   Jacquemin, Emmanuel ^a  

^a BICÊTRE HOSPITAL   (France)

Author keywords

Biliary atresia; CFC1 gene; Polysplenia syndrome

Indexed keywords

ACCESSORY SPLEEN; ARTICLE; BILE DUCT ATRESIA; CFC1 GENE; CLINICAL ARTICLE; CONTROLLED STUDY; GENE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC PREDISPOSITION; HUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

BILIARY ATRESIA; DNA; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INFANT, NEWBORN; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SPLEEN; SYNDROME;

EID: 37549045669     PISSN: 02772116     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.mpg.0000304465.60788.f4     Document Type: Article

References (8)

1. Bates MD, Bucuvalas JC, Alonso MH, et al. Biliary atresia: pathogenesis and treatment. Semin Liver Dis 1998;18:281-93.
2. Davenport M, Tizzard SA, Underhill J, et al. The biliary atresia splenic malformation syndrome: a 28-year single-centre retrospective study. J Pediatr 2006;149:393-400.
3. Bamford RN, Roessler E, Burdine RD, et al. Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects. Nat Genet 2000;26:365-9.
4. Jacquemin E, Cresteil D, Raynaud N, et al. CFC1 gene mutation and biliary atresia with polysplenia syndrome. J Pediatr Gastroenterol Nutr 2002;34:326-7.
5. Stoll C, Morali A, Leheup B, et al. Extrahepatic biliary atresia with laterality sequence anomalies. Genet Couns 2001;12:157-61.
6. Ozcelik C, Bit-Avragim N, Panek A, et al. Mutations in the EGF-CFC gene Cryptic are infrequent cause of congenital heart disease. Pediatr Cardiol 2006;27:695-8.
7. Schön P, Tsuchiya K, Lenoir D, et al. Identification, genomic organization, chromosomal mapping and mutation analysis of the human INV gene, the ortholog of a murine gene implicated in left-right axis development and biliary atresia. Hum Genet 2002;110:157-65.
8. Ware SM, Peng J, Zhu L, et al. Identification and functional analysis of ZIC3 mutations in heterotaxy and related congenital heart defects. Am J Hum Genet 2004;74:93-105.