Caroli syndrome in full brothers caused by new mutation of PKHD1 gene
10.3670.cma.j.issn.1007-631X.2019.11.018
- VernacularTitle: PKHD1基因新突变致兄弟同患Caroli综合征
- Author:
Zhijun HUANG
1
;
Keke CHEN
1
;
Xianhai MAO
1
;
Xiangling HE
1
Author Information
1. First Affiliated Hospital of Hunan Normal University/Children′s Medical Center of Hunan People′s Hospital , Changsha 410005, China
- Publication Type:Journal Article
- Keywords:
Caroli disease;
DNA Mutational analysis;
Children
- From:
Chinese Journal of General Surgery
2019;34(11):976-978
- CountryChina
- Language:Chinese
-
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.
