Caroli syndrome in full brothers caused by new mutation of PKHD1 gene / 中华普通外科杂志

ABSTRACT

Objective To explore the new gene mutation and clinical manifestations of Caroli syndrome in 2 blood brother cases.Methods The clinical data of the 2 brothers with clinical diagnosis of Caroli syndrome were analyzed,and the related genes were detected by second-generation sequencing technology.Results The PKHD1 gene of both brothers had the mutation of c.5059A ＞ T (exon32).c.4358 (exon 32)delC shift mutation,neither of which has been reported in OMIM database.Conclusion After analysis,c.4358 (exon32) delC and c.5059A ＞ T(exon32) may be the new pathogenic mutation of this disease,with the same mutant genotype but completely different phenotype.