Traboulsi syndrome due to ASPH mutation: an under-recognised cause of ectopia lentis

Clin Dysmorphol. 2019 Oct;28(4):184-189. doi: 10.1097/MCD.0000000000000287.

Abstract

Traboulsi syndrome is an extremely rare ophthalmological disorder characterised by facial dysmorphism, lens dislocation, anterior segment abnormalities and spontaneous filtering blebs. It is caused by pathogenic variants in the ASPH gene. To date, only 13 individuals with Traboulsi syndrome from three families have been reported in the literature. We report the first UK family with Traboulsi syndrome associated with two novel ASPH variants. This condition, which has some phenotypic overlap with both Marfan syndrome and homocystinuria, is most likely under ascertained, and we further delineate the clinical features to aid its recognition.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Calcium-Binding Proteins / genetics*
  • Child, Preschool
  • DNA Mutational Analysis
  • Ectopia Lentis / diagnosis*
  • Ectopia Lentis / genetics*
  • Female
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Humans
  • Membrane Proteins / genetics*
  • Mixed Function Oxygenases / genetics*
  • Muscle Proteins / genetics*
  • Mutation
  • Phenotype

Substances

  • Calcium-Binding Proteins
  • Membrane Proteins
  • Muscle Proteins
  • Mixed Function Oxygenases
  • ASPH protein, human