Key result
SOX17 variants in PAH patients cluster loss-of-function in the last exon and missense in exon one.
Why the study?
Genetics plays an important and increasing role in the diagnosis of PAH, but the precise association between SOX17 variants and PAH development remains unclear.
Design
Case series with literature review
Authors
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May support targeted genetic evaluation in PAH with congenital heart disease; leaves open prevalence, causality, and therapeutic implications.
Case Report (n=67)
SOX17 variants, particularly loss-of-function in the last exon and missense in exon one, are associated with pulmonary arterial hypertension, often co-occurring with congenital heart disease.
Gallego et al. (2023) conducted a case report in Pulmonary arterial hypertension (PAH) (n=67). SOX17 variants was evaluated. SOX17 variants were identified in 67 patients with pulmonary arterial hypertension, with loss-of-function variants mostly in the last exon and missense variants in exon one.
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