Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy

Exp Eye Res. 2021 Jun:207:108575. doi: 10.1016/j.exer.2021.108575. Epub 2021 Apr 14.

Abstract

Sveinsson's chorioretinal atrophy (SCRA) or helicoidal peripapillary chorioretinal degeneration (HPCD) as previously referred, is a rare ocular disease with autosomal dominant pattern of inheritance. The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA was also described in patients of non-Icelandic descent. Here, we report a novel disease-causing variant c.1261T>A, p.Tyr421Asn in TEAD1, detected in a Serbian family from Bosnia diagnosed with SCRA. The newly discovered change occurred at the same position as the "Icelandic mutation" (c.1261T>C, p.Tyr421His). According to our findings, this position in the exon 13 of the TEAD1 gene, at base pair 94, should be considered as a mutation hotspot and a starting point for future genetic analyses of patients with SCRA diagnosis.

Keywords: Helicoidal peripapillary chorioretinal degeneration; Sveinsson's chorioretinal atrophy; TEAD1, novel variant.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Corneal Dystrophies, Hereditary / genetics*
  • DNA-Binding Proteins / genetics*
  • Female
  • Humans
  • Male
  • Middle Aged
  • Mutation, Missense*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Polymerase Chain Reaction
  • Retinal Degeneration / genetics*
  • Serbia / epidemiology
  • TEA Domain Transcription Factors
  • Transcription Factors / genetics*
  • White People / genetics*
  • Young Adult

Substances

  • DNA-Binding Proteins
  • Nuclear Proteins
  • TEA Domain Transcription Factors
  • TEAD1 protein, human
  • Transcription Factors

Supplementary concepts

  • Sveinsson Chorioretinal Atrophy