Caroli syndrome in full brothers caused by new mutation of PKHD1 gene / 中华普通外科杂志
Chinese Journal of General Surgery
; (12): 976-978, 2019.
Article
em Zh
| WPRIM
| ID: wpr-824747
Biblioteca responsável:
WPRO
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.
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Base de dados:
WPRIM
Idioma:
Zh
Revista:
Chinese Journal of General Surgery
Ano de publicação:
2019
Tipo de documento:
Article