Austin Eric D, Loyd James E, Phillips John A
Department of Pediatrics, Division of Pulmonary, Allergy, and Immunology Medicine, Vanderbilt University School of Medicine, Nashville, Tennessee 37232-2578, USA.
Semin Respir Crit Care Med. 2009 Aug;30(4):386-98. doi: 10.1055/s-0029-1233308. Epub 2009 Jul 24.
Tremendous progress has been made in understanding the genetics of hereditable pulmonary arterial hypertension (HPAH) since its description in the 1950s. Germline mutations in the gene coding bone morphogenetic receptor type 2 ( BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH). HPAH is an autosomal dominant disease characterized by reduced penetrance, variable expressivity, female predominance, and genetic anticipation. These characteristics suggest that endogenous and exogenous factors modify disease expression and areas of emphasis for future investigation. The variable clinical expression makes genetic counseling complex because the majority of carriers of a BMPR2 mutation will not be diagnosed with the disease. This issue will become increasingly important, as clinical testing for BMPR2 mutations is now available for the evaluation of patients and family members with HPAH and IPAH.
自20世纪50年代遗传性肺动脉高压（HPAH）被描述以来，在了解其遗传学方面已经取得了巨大进展。在大多数HPAH病例以及一小部分特发性肺动脉高压（IPAH）病例中，可检测到编码骨形态发生蛋白受体2型（BMPR2）的基因种系突变。HPAH是一种常染色体显性疾病，其特征为外显率降低、表达可变、女性居多以及遗传早现。这些特征表明内源性和外源性因素会改变疾病的表现，也是未来研究的重点领域。临床表达的多变性使得遗传咨询变得复杂，因为大多数BMPR2突变携带者不会被诊断出患有该疾病。随着现在可通过对BMPR2突变进行临床检测来评估HPAH和IPAH患者及其家庭成员，这个问题将变得越来越重要。
