CFC1 gene involvement in biliary atresia with polysplenia syndrome.
The present report describes CFC1 gene analysis in 10 patients with polysplenia syndrome. The heterozygous transition c.433G>A (Ala145Thr) located in exon 5 was identified in 5 patients, with a twice-higher frequency than in control patients. These results suggest that heterozygous CFC1 mutation may represent a genetic predisposition to biliary atresia splenic malformation syndrome.
Davit-Spraul
Anne
A
Biochemistry Laboratory, France.
Baussan
Christiane
C
Hermeziu
Bogdan
B
Bernard
Olivier
O
Jacquemin
Emmanuel
E
D001656:Biliary Atresia / Q000150:complications / Q000235:genetics*; D004247:DNA / Q000737:chemistry; D020022:Genetic Predisposition to Disease; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D009154:Mutation; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013154:Spleen / Q000002:abnormalities*; D013577:Syndrome
C491268:CFC1 protein, human; D036341:Intercellular Signaling Peptides and Proteins; D004247:DNA