P3H2 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Prolyl 3-hydroxylase 2
  • Involved in collagen modification
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • Autosomal recessive
Ocular features
  • Scleral fragility
Visual function
  • Not significantly affected
Systemic features
  • Osteogenesis imperfecta
  • Joint contractures
Key investigations
  • Genetic testing: identification of P3H2 mutations
Management
  • Management of skeletal symptoms
  • Physiotherapy and orthopaedic interventions
Therapies under research
  • None currently specified

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References

  1. Ye L, Guo YM, Cai YX, Wei J, Huang J, Bi J, Chen D, Li FF, Huang XF. Trio-based whole-exome sequencing reveals mutations in early-onset high myopia. BMJ Open Ophthalmology. 2024 May 1;9(1):e001720.

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Updated on July 8, 2024
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