{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,9]],"date-time":"2026-03-09T03:49:33Z","timestamp":1773028173901,"version":"3.50.1"},"reference-count":30,"publisher":"European Respiratory Society (ERS)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Eur Respir J"],"accepted":{"date-parts":[[2011,6,26]]},"published-print":{"date-parts":[[2012,3]]},"abstract":"<jats:p>Mutations of the bone morphogenetic protein type II receptor (<jats:italic>BMPR2<\/jats:italic>) gene predispose to pulmonary arterial hypertension (PAH). 290 idiopathic (I)PAH patients and 15 heritable (H)PAH were screened to determine the spectrum and rate of<jats:italic>BMPR2<\/jats:italic>mutations in a large Chinese patient group.<\/jats:p><jats:p>Gene sequencing and multiplex ligation-dependent probe amplification (MLPA\u00ae) were used to detect sequence mutations and large rearrangements (RGTs). Total mutation rate was 14.5% (n=42 out of 290) in Chinese IPAH patients, and 53.3% (n=8 out of 15) in HPAH patients. RGT mutation rate was 3.1% (n=7 out of 229) and represented 14% (n=7 out of 50) of all identified mutations. 25<jats:italic>BMPR2<\/jats:italic>mutations were newly identified.<\/jats:p><jats:p>Patients in this study were younger than other reported PAH subjects.<jats:italic>BMPR2<\/jats:italic>mutation carriers were \u223c6 yrs younger at diagnosis than noncarriers (p=0.002), but this relationship was significant only in the female group, which was larger. The proportion of females carrying a<jats:italic>BMPR2<\/jats:italic>mutation was half that of males (12.8%<jats:italic>versus<\/jats:italic>25.3%; p=0.008).<\/jats:p><jats:p>Our results indicate that the overall genetics of Chinese PAH patients is similar to that of other populations, but the clinical picture differs by the precocity of the disease in the whole patient group, and the lower proportion of females found to carry a<jats:italic>BMPR2<\/jats:italic>mutation.<\/jats:p>","DOI":"10.1183\/09031936.00072911","type":"journal-article","created":{"date-parts":[[2011,7,8]],"date-time":"2011-07-08T14:48:08Z","timestamp":1310136488000},"page":"597-603","source":"Crossref","is-referenced-by-count":34,"title":["Molecular genetics and clinical features of Chinese idiopathic and heritable pulmonary arterial hypertension patients"],"prefix":"10.1183","volume":"39","author":[{"given":"D.","family":"Liu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Q-Q.","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Eyries","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W-H.","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Yuan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Soubrier","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Z-C.","family":"Jing","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"81","published-online":{"date-parts":[[2011,7,7]]},"reference":[{"key":"2024102020450012000_39.3.597.1","doi-asserted-by":"crossref","first-page":"216","DOI":"10.7326\/0003-4819-107-2-216","article-title":"Primary pulmonary hypertension. 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