Dominant Stickler Syndrome

Genes (Basel). 2022 Jun 18;13(6):1089. doi: 10.3390/genes13061089.


The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of the autosomal dominant forms of the disease. Pathogenic variants in COL2A1 causing Stickler syndrome usually result in haploinsufficiency of the protein, whereas pathogenic variants of type XI collagen more usually exert dominant negative effects. The severity of the disease phenotype is thus dependent on the location and nature of the mutation, as well as the normal developmental role of the respective protein.

Keywords: COL11A1; COL2A1; Stickler syndrome; giant retinal tear; retinal detachment; vitreous.

Publication types

  • Review

MeSH terms

  • Arthritis* / genetics
  • Connective Tissue Diseases* / genetics
  • Connective Tissue Diseases* / pathology
  • Craniofacial Abnormalities*
  • Eye Diseases, Hereditary*
  • Hearing Loss, Sensorineural
  • Humans
  • Osteochondrodysplasias*
  • Pedigree
  • Retinal Detachment* / genetics
  • Retinal Detachment* / pathology

Supplementary concepts

  • Stickler syndrome, type 1

Grants and funding

This research received no external funding.