TBX4 mutations (small patella syndrome) are associated with childhood-onset pulmonary arterial hypertension.

ABSTRACT:

Background

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, BMPR2, were reported to cause PAH in only 10-16% of childhood-onset patients. We aimed to identify more genes associated with childhood-onset PAH.

Methods

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. TBX2 and TBX4 were selected from this area as candidate genes and sequenced i

SUBMITTER: Kerstjens-Frederikse WS 

PROVIDER: S-EPMC3717587 | biostudies-literature | 2013 Aug

REPOSITORIES: biostudies-literature