A novel ASPH variant extends the phenotype of Shawaf-Traboulsi syndrome

Am J Med Genet A. 2018 Nov;176(11):2494-2500. doi: 10.1002/ajmg.a.40508. Epub 2018 Sep 8.

Abstract

Shawaf-Traboulsi syndrome (or Traboulsi syndrome; MIM 601552) is an infrequently reported entity characterized by a typical face (long face, large nose, convex nasal ridge, underdeveloped malae, crowded teeth, retrognathia), skeletal signs (long and slender fingers, sometimes pectus deformation and hypermobile joints), and ectopia lentis with conjunctival blebs, shallow anterior chamber and iridocorneal adhesions. The entity is caused by homozygous variants in ASPH. Here, we report on a boy with the clinical diagnosis of Shawaf-Traboulsi syndrome, in whom exome sequencing allowed identification of a novel variant in ASPH. We compare the findings in the present patient to those of earlier reported patients; furthermore add new signs for this entity.

Keywords: ASPH; Shawaf-Traboulsi syndrome; Traboulsi syndrome; autosomal recessive; ectopia lentis; exome sequencing.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Adolescent
  • Adult
  • Aged
  • Calcium-Binding Proteins / genetics*
  • Child
  • Child, Preschool
  • Female
  • Genetic Variation*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Membrane Proteins / genetics*
  • Mixed Function Oxygenases / genetics*
  • Muscle Proteins / genetics*
  • Pedigree
  • Syndrome

Substances

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