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Recurrent epistaxis is the primary complaint in 90%\u201096% of HHT patients and the other symptoms come with age. The aim of this study was to analyze HHT\u2010associated gene variant spectrum in Chinese HHT patients and to assess whether genetic testing could contribute to the early diagnosis.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methodology\/Principal<\/jats:title><jats:p>Thirty one HHT families including 62 individuals were recruited. Variants in the coding regions of four genes involved in HHT were amplified and analyzed using Sanger sequencing and multiplex ligation\u2010dependent probe amplification (MLPA).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Twenty unique variants, including 8 novel variants were found in 24 of the 31 (77.4%) kindred. Diagnosis is confirmed for 7 possible individuals from 6 kindred. Thirteen <jats:italic>ACVRL1<\/jats:italic> variants were detected from 17 isolated HHT families. Variants in <jats:italic>ACVRL1<\/jats:italic> from 8\/17 (47.1%) families were located in exon8. Seven <jats:italic>ENG<\/jats:italic> variants were found in 7 unrelated families throughout the coding region.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>We conclude that <jats:italic>ACVRL1<\/jats:italic> gene variant is 2.4 times more prevalent than that in <jats:italic>ENG<\/jats:italic> in Chinese individuals with HHT, and exon8 of the <jats:italic>ACVRL1<\/jats:italic> gene may be a hotspot region. Genetic testing could contribute to early diagnosis for HHT.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.893","type":"journal-article","created":{"date-parts":[[2019,8,10]],"date-time":"2019-08-10T07:38:55Z","timestamp":1565422735000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Variant analysis in Chinese families with hereditary hemorrhagic telangiectasia"],"prefix":"10.1002","volume":"7","author":[{"given":"Yali","family":"Zhao","sequence":"first","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing TongRen Hospital, Capital Medical University Beijing China"},{"name":"Beijing Key Laboratory of Nasal Diseases Beijing Institute of Otolaryngology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuan","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing TongRen Hospital, Capital Medical University Beijing China"},{"name":"Beijing Key Laboratory of Nasal Diseases Beijing Institute of Otolaryngology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiangdong","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing TongRen Hospital, Capital Medical University Beijing China"},{"name":"Beijing Key Laboratory of Nasal Diseases Beijing Institute of Otolaryngology Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0910-9884","authenticated-orcid":false,"given":"Luo","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology Head and Neck Surgery Beijing TongRen Hospital, Capital Medical University Beijing China"},{"name":"Beijing Key Laboratory of Nasal Diseases Beijing Institute of Otolaryngology Beijing China"},{"name":"Department of Allergy Beijing TongRen Hospital, Capital Medical University Beijing China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,8,10]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200919"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9312"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.7.494"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1097\/01.GIM.0000132689.25644.7C"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31101"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1086\/513903"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.20342"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2004.00341.x"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1111\/eci.12138"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.10203"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-200001000-00008"},{"key":"e_1_2_7_13_1","unstructured":"HHT mutation database. 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