Pulmonary arterial hypertension (PAH) is a lethal disease . Although mutations in BMPR2 and other genes have been reported, the genetic causes in large numbers of patients, especially with sporadic PAH, remain unknown. In 2013, Kerstjens-Frederikse et al. first reported TBX4 mutations in patients with PAH . TBX4 is an essential transcription factor for the development of the hindlimbs and lungs . In European countries, the frequency of TBX4 mutation was reported as 2.4-4.1% in adult-onset PAH [2, 4] and as 7.5-30% in child-onset PAH [2, 5] (Fig. 27.1). However, its frequency in Asian patients with PAH has yet to be studied.
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