{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T09:30:07Z","timestamp":1776763807660,"version":"3.51.2"},"reference-count":90,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T00:00:00Z","timestamp":1673222400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"The National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["82070379"],"award-info":[{"award-number":["82070379"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"The National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["21ZR1455500"],"award-info":[{"award-number":["21ZR1455500"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"name":"The Natural Science Foundation of Shanghai, China","award":["82070379"],"award-info":[{"award-number":["82070379"]}]},{"name":"The Natural Science Foundation of Shanghai, China","award":["21ZR1455500"],"award-info":[{"award-number":["21ZR1455500"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Dilated cardiomyopathy (DCM), characterized by left ventricular or biventricular enlargement with systolic dysfunction, is the most common type of cardiac muscle disease. It is a major cause of congestive heart failure and the most frequent indication for heart transplantation. Aggregating evidence has convincingly demonstrated that DCM has an underlying genetic basis, though the genetic defects responsible for DCM in a larger proportion of cases remain elusive, motivating the ongoing research for new DCM-causative genes. In the current investigation, a multigenerational family affected with autosomal-dominant DCM was recruited from the Chinese Han population. By whole-exome sequencing and Sanger sequencing analyses of the DNAs from the family members, a new BMP10 variation, NM_014482.3:c.166C &gt; T;p.(Gln56*), was discovered and verified to be in co-segregation with the DCM phenotype in the entire family. The heterozygous BMP10 variant was not detected in 268 healthy volunteers enrolled as control subjects. The functional measurement via dual-luciferase reporter assay revealed that Gln56*-mutant BMP10 lost the ability to transactivate its target genes NKX2.5 and TBX20, two genes that had been causally linked to DCM. The findings strongly indicate BMP10 as a new gene contributing to DCM in humans and support BMP10 haploinsufficiency as an alternative pathogenic mechanism underpinning DCM, implying potential implications for the early genetic diagnosis and precision prophylaxis of DCM.<\/jats:p>","DOI":"10.3390\/diagnostics13020242","type":"journal-article","created":{"date-parts":[[2023,1,9]],"date-time":"2023-01-09T04:42:17Z","timestamp":1673239337000},"page":"242","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":15,"title":["Identification of BMP10 as a Novel Gene Contributing to Dilated Cardiomyopathy"],"prefix":"10.3390","volume":"13","author":[{"given":"Jia-Ning","family":"Gu","sequence":"first","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen-Xi","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuan-Yuan","family":"Ding","sequence":"additional","affiliation":[{"name":"Shanghai Health Development Research Center, Shanghai Medical Information Center, Shanghai 200031, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Qiao","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ruo-Min","family":"Di","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yu-Min","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Jing\u2019an District Central Hospital, Fudan University, Shanghai 200040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Jing\u2019an District Central Hospital, Fudan University, Shanghai 200040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ling","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200030, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ying-Jia","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0291-8395","authenticated-orcid":false,"given":"Yi-Qing","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"},{"name":"Department of Cardiovascular Research Laboratory, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"},{"name":"Department of Central Laboratory, Shanghai Fifth People\u2032s Hospital, Fudan University, Shanghai 200240, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2023,1,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"288","DOI":"10.1097\/HCO.0000000000000845","article-title":"Genetics of dilated cardiomyopathy","volume":"36","author":"Chen","year":"2021","journal-title":"Curr. 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