RESUMO

KIF12 has been identified as a cholestasis-associated candidate gene. We describe 6 cases from 4 unrelated families with diverse cholestatic phenotypes carrying 2 different homozygous KIF12 truncating variants. Immunofluorescence investigations of paraffin-embedded liver sections suggest that KIF12-associated impaired functional cell polarity may be the underlying cause.

Assuntos

Colestase/genética , Cinesinas/genética , Hepatopatias/genética , Adolescente , Criança , Pré-Escolar , Feminino , Predisposição Genética para Doença , Hepatócitos/metabolismo , Humanos , Masculino , Mutação , Sequenciamento Completo do Genoma