Case report of a PRDM5 linked brittle cornea syndrome type 2 in association with a novel SLC6A5 mutation

Indian J Ophthalmol. 2020 Nov;68(11):2545-2547. doi: 10.4103/ijo.IJO_325_20.

Abstract

A 3-year-old girl presenting with blue sclera, hyperlaxity and developmental dysplasia of hip was found to have bilateral corneal thinning with astigmatism and keratoconus. By clinical exome sequencing, a frameshift mutation c.713_716 del TTTG p.(Val238Alafs*35) in PRDM5 gene causing brittle cornea syndrome 2 and a novel frameshift mutation c.401dup p.(Ser135Glufs*53) in SLC6A5 gene causing Hyperekplexia 3 were identified. No features of hyperekplexia were identified in proband. The novel homozygous mutation of SLC6A5 gene in the proband was presently asymptomatic but they were apprised of the possibility of developing neurological symptoms in the later years.

Keywords: Blue sclera; Brittle cornea syndrome; hyperekplexia; keratoconus.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Cornea
  • DNA-Binding Proteins / genetics
  • Eye Abnormalities* / diagnosis
  • Eye Abnormalities* / genetics
  • Female
  • Glycine Plasma Membrane Transport Proteins
  • Humans
  • Joint Instability / congenital
  • Keratoconus*
  • Mutation
  • Skin Abnormalities
  • Transcription Factors / genetics

Substances

  • DNA-Binding Proteins
  • Glycine Plasma Membrane Transport Proteins
  • PRDM5 protein, human
  • SLC6A5 protein, human
  • Transcription Factors

Supplementary concepts

  • Brittle cornea syndrome 1