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NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China
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NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China
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Journal Article
NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China
2021
Overview
Background
Hereditary hemorrhagic telangiectasia (HHT) is a disease characterized by arteriovenous malformations in the skin and mucous membranes. We enrolled a large pedigree comprising 32 living members, and screened for mutations responsible for HHT.
Methods
We performed whole-exome sequencing to identify novel mutations in the pedigree after excluding three previously reported HHT-related genes using Sanger sequencing. We then performed in silico functional analysis of candidate mutations that were obtained using a variant filtering strategy to identify mutations responsible for HHT.
Results
After screening the HHT-related genes, activin A receptor-like type 1 (
ACVRL1
), endoglin (
ENG
), and SMAD family member 4 (
SMAD4
), we did not detect any co-segregated mutations in this pedigree. Whole-exome sequencing analysis of 7 members and Sanger sequencing analysis of 16 additional members identified a mutation (c.784A > G) in the NSF attachment protein gamma (
NAPG
) gene that co-segregated with the disease. Functional prediction showed that the mutation was deleterious and might change the conformational stability of the NAPG protein.
Conclusions
NAPG
c.784A > G may potentially lead to HHT. These results expand the current understanding of the genetic contributions to HHT pathogenesis.
Publisher
BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
