NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China.
BMC Pulm Med
; 21(1): 197, 2021 Jun 10.
Article
in En
| MEDLINE
| ID: mdl-34112136
ABSTRACT
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Telangiectasia, Hereditary Hemorrhagic
/
Family
/
Soluble N-Ethylmaleimide-Sensitive Factor Attachment Proteins
Type of study:
Prognostic_studies
Limits:
Female
/
Humans
/
Male
Country/Region as subject:
Asia
Language:
En
Journal:
BMC Pulm Med
Year:
2021
Document type:
Article