Revise MONDO_0010945 (RP17)

[laraholtes]

MONDO_0010945
retinitis pigmentosa 17

In 2020, complex structural variants were identified at a locus on chromosome 17 in 22 autosomal dominant retinitis pigmentosa families (PMID: 33022222). These structural variants segregated with disease and are thought to disrupt the three dimensional chromatin architecture of the locus and lead to ectopic gene expression in the retina. A variant in the carbonic anhydrase IV (CA4) gene had been previously implicated as the cause of retinitis pigmentosa type 17 in families of South African origin, however pathogenicity of the reported variant has been questioned because it has a population frequency of 4% in healthy controls in northern Sweden (PMID: 20238024). Furthermore, the families of South African origin were also found to harbour a complex structural variant in the RP17 locus (PMID: 33022222). For more information on retinitis pigmentosa type 17, see the OMIM entry (600852).

Lara K. Holtes
ORCID: 0009-0000-6337-4403