Description of Two New Cases of AQP1 Related Pulmonary Arterial Hypertension and Review of the Literature

被引:3
|
作者
Gallego-Zazo, Natalia [1 ,2 ,3 ]
Cruz-Utrilla, Alejandro [4 ,5 ]
del Cerro, Maria Jesus [6 ]
Ochoa Parra, Nuria [4 ,5 ]
Blanco, Julian Nevado [1 ,2 ,3 ]
Arias, Pedro [1 ,2 ,3 ]
Lapunzina, Pablo [1 ,2 ,3 ]
Escribano-Subias, Pilar [4 ,5 ,7 ]
Tenorio-Castano, Jair [1 ,2 ,3 ]
机构
[1] Hosp Univ La Paz, Hosp Univ La Paz Res Inst, Inst Med & Mol Genet Mol INGEMM, Madrid 28046, Spain
[2] Inst Salud Carlos III, Ctr Rare Dis Network Res, CIBERER, Madrid 28029, Spain
[3] ITHACA, European Reference Network Rare Congenital Malfor, F-75019 Paris, France
[4] Hosp Univ 12 Octubre, Dept Cardiol, Pulm Hypertens Unit, Madrid 28041, Spain
[5] Inst Salud Carlos III CIBERCV, Ctr Networked Biomed Res Cardiovasc Dis, Madrid 28029, Spain
[6] Hosp Univ Ramon y Cajal, Pulm Hypertens Unit, Madrid 28034, Spain
[7] European Reference Network Pulm Hypertens, ERN, D-60590 Frankfurt, Germany
关键词
AQP1; pulmonary arterial hypertension; massive paralleled sequencing; NGS; genomic medicine; personalized medicine; MUTATIONS; SURVIVAL; RECEPTOR; BMPR2; GENE;
D O I
10.3390/genes13050927
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Pulmonary arterial hypertension (PAH) is a severe clinical condition characterized by an increase in mean pulmonary artery pressure, which leads to a right ventricular hypertrophy and potentially heart failure and death. In the last several years, many genes have been associated with PAH, particularly in idiopathic and heritable forms but also in associated forms. Here we described the identification of two unrelated families in which the AQP1 variant was found from a cohort of 300 patients. The variants were identified by whole exome sequencing (WES). In the first family, the variant was detected in three affected members from a hereditary PAH, and in the second family the proband had PAH associated with scleroderma. In addition, we have reviewed all cases published in the literature thus far of patients with PAH and AQP1 variants. Functional studies have led to some contradictory conclusions, and the evidence of the relationship of AQP1 and PAH is still limited. However, we describe two further families with PAH and variants in AQP1, expanding both the number of cases and the clinically associated phenotype. We provide further evidence of the association of AQP1 and the development of hereditary and associated forms of PAH.
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页数:11
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