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• W2140026505 abstract "<h3>Background</h3> Childhood-onset pulmonary arterial hypertension (PAH) is rare and differs from adult-onset disease in clinical presentation, with often unexplained mental retardation and dysmorphic features (MR/DF). Mutations in the major PAH gene, <i>BMPR2</i>, were reported to cause PAH in only 10–16% of childhood-onset patients. We aimed to identify more genes associated with childhood-onset PAH. <h3>Methods</h3> We studied 20 consecutive cases with idiopathic or heritable PAH. In patients with accompanying MR/DF (n=6) array-comparative genomic hybridisation analysis was performed, with the aim of finding common deletion regions containing candidate genes for PAH. Three patients had overlapping deletions of 17q23.2. <i>TBX2</i> and <i>TBX4</i> were selected from this area as candidate genes and sequenced in all 20 children. After identifying <i>TBX4</i> mutations in these children, we subsequently sequenced <i>TBX4</i> in a cohort of 49 adults with PAH. Because <i>TBX4</i> mutations are known to cause small patella syndrome (SPS), all patients with newly detected <i>TBX4</i> mutations were screened for features of SPS. We also screened a third cohort of 23 patients with SPS for PAH. <h3>Results</h3> <i>TBX4</i> mutations (n=3) or <i>TBX4</i>-containing deletions (n=3) were detected in 6 out of 20 children with PAH (30%). All living patients and two parents with <i>TBX4</i> mutations appeared to have previously unrecognised SPS. In the adult PAH-cohort, one <i>TBX4</i> mutation (2%) was detected. Screening in the cohort of (predominantly adult) SPS patients revealed no PAH. <h3>Conclusions</h3> These data indicate that <i>TBX4</i> mutations are associated with childhood-onset PAH, but that the prevalence of PAH in adult <i>TBX4</i> mutation carriers is low." @default.
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• W2140026505 date "2013-04-16" @default.
• W2140026505 modified "2023-10-10" @default.
• W2140026505 title "<i>TBX4</i>mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension" @default.
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• W2140026505 doi "https://doi.org/10.1136/jmedgenet-2012-101152" @default.
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