{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T00:49:17Z","timestamp":1760143757438,"version":"build-2065373602"},"reference-count":61,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T00:00:00Z","timestamp":1708992000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Joint Research Foundation of Luzhou City and Southwest Medical University","award":["2018LZXNYD-YL01","82073263","30371493","31701087","81672887"],"award-info":[{"award-number":["2018LZXNYD-YL01","82073263","30371493","31701087","81672887"]}]},{"name":"National Natural Science Foundation of China","award":["2018LZXNYD-YL01","82073263","30371493","31701087","81672887"],"award-info":[{"award-number":["2018LZXNYD-YL01","82073263","30371493","31701087","81672887"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Hereditary hemorrhagic telangiectasia (HHT), also called Rendu\u2013Osler syndrome, is a group of rare genetic diseases characterized by autosomal dominance, multisystemic vascular dysplasia, and age-related penetrance. This includes arteriovenous malformations (AVMs) in the skin, brain, lung, liver, and mucous membranes. The correlations between the phenotype and genotype for HHT are not clear. An HHT Chinese pedigree was recruited. Whole exome sequencing (WES) analysis, Sanger verification, and co-segregation were conducted. Western blotting was performed for monitoring ENG\/VEGF\u03b1 signaling. As a result, a nonsense, heterozygous variant for ENG\/CD105: c.G1169A:p. Trp390Ter of the proband with hereditary hemorrhagic telangiectasia type 1 (HHT1) was identified, which co-segregated with the disease in the M666 pedigree. Western blotting found that, compared with the normal levels associated with non-carrier family members, the ENG protein levels in the proband showed approximately a one-half decrease (47.4% decrease), while levels of the VEGF\u03b1 protein, in the proband, showed approximately a one-quarter decrease (25.6% decrease), implying that ENG haploinsufficiency, displayed in the carrier of this variant, may affect VEGF\u03b1 expression downregulation. Pearson and Spearman correlation analyses further supported TGF\u03b2\/ENG\/VEGF\u03b1 signaling, implying ENG regulation in the blood vessels. Thus, next-generation sequencing including WES should provide an accurate strategy for gene diagnosis, therapy, genetic counseling, and clinical management for rare genetic diseases including that in HHT1 patients.<\/jats:p>","DOI":"10.3390\/genes15030304","type":"journal-article","created":{"date-parts":[[2024,2,27]],"date-time":"2024-02-27T05:20:32Z","timestamp":1709011232000},"page":"304","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["The ENG\/VEGF\u03b1 Pathway Is Likely Affected by a Nonsense Variant of Endoglin (ENG)\/CD105, Causing Hereditary Hemorrhagic Telangiectasia Type 1 (HHT1) in a Chinese Family"],"prefix":"10.3390","volume":"15","author":[{"given":"Kemeng","family":"Liu","sequence":"first","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou 646000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3260-6360","authenticated-orcid":false,"given":"Jiewen","family":"Fu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou 646000, China"},{"name":"School of Basic Medical Sciences, Southwest Medical University, Luzhou 646000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kan","family":"Guo","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou 646000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3218-1059","authenticated-orcid":false,"given":"Mazaher","family":"Maghsoudloo","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou 646000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9022-7246","authenticated-orcid":false,"given":"Jingliang","family":"Cheng","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou 646000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0708-2200","authenticated-orcid":false,"given":"Junjiang","family":"Fu","sequence":"additional","affiliation":[{"name":"Key Laboratory of Epigenetics and Oncology, The Research Center for Preclinical Medicine, Southwest Medical University, Luzhou 646000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2024,2,27]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"918","DOI":"10.1056\/NEJM199510053331407","article-title":"Hereditary hemorrhagic telangiectasia","volume":"333","author":"Guttmacher","year":"1995","journal-title":"N. 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