Abstract
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.
MeSH terms
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Biliary Atresia / complications
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Biliary Atresia / genetics*
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DNA / chemistry
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Genetic Predisposition to Disease
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Heterozygote
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Humans
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Infant, Newborn
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Intercellular Signaling Peptides and Proteins / genetics*
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Mutation
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Polymerase Chain Reaction
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Sequence Analysis, DNA
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Spleen / abnormalities*
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Syndrome
Substances
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CFC1 protein, human
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Intercellular Signaling Peptides and Proteins
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DNA