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http://purl.uniprot.org/citations/34112136http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/34112136http://www.w3.org/2000/01/rdf-schema#comment"

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."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.org/dc/terms/identifier"doi:10.1186/s12890-021-01524-4"xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Xu Y."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Zhang Y.B."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Wang P.P."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Lin J.M."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Li R.H."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Gao Z.C."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Tian J.L."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Liang L.J."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/author"Gu M.L."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/date"2021"xsd:gYear
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/name"BMC Pulm Med"xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/pages"197"xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/title"NAPG mutation in family members with hereditary hemorrhagic telangiectasia in China."xsd:string
http://purl.uniprot.org/citations/34112136http://purl.uniprot.org/core/volume"21"xsd:string
http://purl.uniprot.org/citations/34112136http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/34112136
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