A novel variant in PAX6 as the cause of aniridia in a Chinese family

BMC Ophthalmol. 2021 May 20;21(1):225. doi: 10.1186/s12886-021-01848-z.

Abstract

Background: Aniridia is a kind of congenital human pan-ocular anomaly, which is related to PAX6 commonly.

Methods: The ophthalmic examinations including visual acuity, slit lamp and fundoscopy examination were performed in a Chinese aniridia pedigree. The targeted next-generation sequencing of aniridia genes was used to identify the causative mutation.

Results: A novel heterozygous PAX6 nonsense mutation c.619A > T (p.K207*) was identified in the Chinese autosomal dominant family with aniridia. Phenotype related to the novel mutation included nystagmus, keratopathy, absence of iris, cataract and foveal hypoplasia.

Conclusions: The novel nonsense variation in PAX6 was the cause of aniridia in this family, which expanded the spectrum of the PAX6 mutation.

Keywords: Aniridia; Autosomal dominant inheritance; Mutation; PAX6 gene.

MeSH terms

  • Aniridia* / genetics
  • China
  • Eye Proteins / genetics
  • Heterozygote
  • Humans
  • Mutation
  • PAX6 Transcription Factor / genetics
  • Pedigree

Substances

  • Eye Proteins
  • PAX6 Transcription Factor
  • PAX6 protein, human