The following is a summary of “The SOX17 phenotype in pulmonary arterial hypertension: lessons for pathobiology and clinical management” published in the December 2022 issue of Respiratory by Aman et al.

Researchers from around the world have been collaborating over the past 5 years to examine the genetic underpinnings of pulmonary arterial hypertension (PAH). As a result of their efforts, a number of gene variants and mutations have been uncovered. Recent advances in sequencing technology are what have made it possible for these discoveries to be made. 

The clinical picture linked with these mutations is becoming increasingly obvious as more detailed phenotyping is carried out. [Cause and effect] For instance, histological and clinical characteristics were characterized once it was discovered that pathogenic mutations existed in TBX4 and  kinase insert domain receptor(KDR) [1, 2]. [Note: The sickness was caused by these alterations in the genetic code. These phenotypes included specific characteristics, such as a small patella and bronchial diverticulosis for TBX4, and a low diffusing capacity of the lung for carbon monoxide and interstitial changes for KDR [3–5]. 

TBX4 was found to be associated with these phenotypes, while KDR was associated with the latter. Furthermore, KDR was shown to be connected with the former phenotype, whilst TBX4 was found to be associated with the former. The clinical and histological characterization of mutant carriers can yield insights into the cellular mechanisms at play. These insights can be used to inform future research. This is because, in the same way, that mutations do, these studies unearth essential participants in the pathophysiology of the disease.