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BMPR2 mutations found in Japanese patients with familial and sporadic primary pulmonary hypertension
Author(s) -
Morisaki Hiroko,
Nakanishi Norifumi,
Kyotani Shingo,
Takashima Atsushi,
Tomoike Hitonobu,
Morisaki Takayuki
Publication year - 2004
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9251
Subject(s) - bmpr2 , missense mutation , frameshift mutation , biology , nonsense mutation , genetics , mutation , bone morphogenetic protein receptor , compound heterozygosity , gene , bone morphogenetic protein
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. © 2004 Wiley‐Liss, Inc.