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Short article: Sequence variations of PKHD1 underlie congenital hepatic fibrosis in a Chinese family.

Authors: Yang, Ni  Leng, Yunji  Dai, Shundong  Chen, Chen  Liu, Chunfeng  Cao, Lihua 
Citation: Yang N, etal., Eur J Gastroenterol Hepatol. 2019 Mar;31(3):363-367. doi: 10.1097/MEG.0000000000001295.
Pubmed: (View Article at PubMed) PMID:30507656
DOI: Full-text: DOI:10.1097/MEG.0000000000001295

OBJECTIVE: Congenital hepatic fibrosis (CHF) is a developmental disorder of the portobiliary system characterized by hepatic fibrosis, portal hypertension, and renal cystic disease. The aim of our study was to identify the disease-causing gene of a Chinese family with CHF.
PATIENTS AND METHODS: Whole-exome sequencing was performed in the family with CHF and variants were confirmed by Sanger sequencing. Online bioinformatics tools were used to evaluate the pathogenicity of the missense variants. Liver specimens were reviewed to confirm the histopathological diagnosis.
RESULTS: The compound heterozygous variants c.7994T>C, p.(Leu2665Pro) and c.8518C>T, p.(Arg2840Cys) in PKHD1 were identified in a Chinese family with CHF by whole-exome sequencing. Liver histomorphology was reviewed to confirm the diagnosis of CHF.
CONCLUSION: We have identified variations in PKHD1 in a Chinese family with CHF. Our study extends the mutation spectrum of CHF and provides information for genetic counseling of patients' family members.


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RGD Object Information
RGD ID: 14700992
Created: 2019-09-03
Species: All species
Last Modified: 2019-09-03
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.