BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension

✍ Scribed by Hiroko Morisaki; Norifumi Nakanishi; Shingo Kyotani; Atsushi Takashima; Hitonobu Tomoike; Takayuki Morisaki

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 79 KB
• Volume: 23
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/humu.9251

✦ Synopsis

Primary pulmonary hypertension (PPH) is a potentially lethal disorder, in which heterozygous mutations within the bone morphogenetic protein type II receptor (BMPR2) gene (BMPR2) have been identified. We conducted a molecular study of BMPR2 mutations in 4 Japanese families with familial PPH and 30 Japanese patients with sporadic PPH, and found 13 different mutations, of which 10 were novel, including missense (n=2), nonsense (n=4), frameshift (n=3), and splice-donor site (n=1) mutations. In total, BMPR2 mutations were found in all 4 familial PPH cases and 12 (40%) of the sporadic PPH cases. Further, a majority of the mutations found were predicted to cause premature termination, as previously reported. In the 9 mutations found in the sporadic cases, 2 were shown to be de novo, 2 were shared in multiple cases, 1 was shared with an FPPH case, and 1 was the same as previously reported in Caucasian FPPH. These results indicate that a substantial portion of Japanese PPH patients carry BMPR2 mutations with considerable heterogeneity.