Bibliographic Details
| Title: |
NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China |
| Authors: |
Yu Xu, Yong-Biao Zhang, Li-Jun Liang, Jia-Li Tian, Jin-Ming Lin, Pan-Pan Wang, Rong-Hui Li, Ming-Liang Gu, Zhan-Cheng Gao |
| Source: |
BMC Pulmonary Medicine, Vol 21, Iss 1, Pp 1-9 (2021) |
| Publisher Information: |
BMC, 2021. |
| Publication Year: |
2021 |
| Collection: |
LCC:Diseases of the respiratory system |
| Subject Terms: |
Hereditary hemorrhagic telangiectasia, Whole-exome sequencing, NAPG, Diseases of the respiratory system, RC705-779 |
| More Details: |
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. |
| Document Type: |
article |
| File Description: |
electronic resource |
| Language: |
English |
| ISSN: |
1471-2466 |
| Relation: |
https://doaj.org/toc/1471-2466 |
| DOI: |
10.1186/s12890-021-01524-4 |
| Access URL: |
https://doaj.org/article/84e75e4b307f4930a42ddb217d93d653 |
| Accession Number: |
edsdoj.84e75e4b307f4930a42ddb217d93d653 |
| Database: |
Directory of Open Access Journals |
