Article

Axenfeld-Rieger syndrome associated with a megabase-scale inversion separating<i>PITX2</i>from a conserved enhancer locus

2025-06-06

Abstract excerpt

Axenfeld–Rieger Syndrome (ARS) is an autosomal dominant condition with both ocular and non-ocular manifestations. ARS is primarily caused by coding variants at the PITX2 or FOXC1 loci, yet many cases still remain undiagnosed. Here we used whole-genome sequencing to identify two non-coding structural variants associated with a typical presentation of PITX2 -associated ARS: one with a 450 kb deletion removing a seri...

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Literature Corpus work: 108a3e37-bbb1-5b6e-8d29-5ec79e3019be
DOI: 10.1101/2025.06.05.25327661

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