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- 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; Xu, Yu; Zhang, Yong-Biao; Liang, Li-Jun; Tian, Jia-Li; Lin, Jin-Ming; Wang, Pan-Pan; Li, Rong-Hui; Gu, Ming-Liang; Gao, Zhan-Cheng
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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.<bold>Results: </bold>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.<bold>Conclusions: </bold>NAPG c.784A > G may potentially lead to HHT. These results expand the current understanding of the genetic contributions to HHT pathogenesis.
- Publication
BMC Pulmonary Medicine, 2021, Vol 21, Issue 1, p1
- ISSN
1471-2466
- Publication type
journal article
- DOI
10.1186/s12890-021-01524-4