PEX10 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Peroxisomal biogenesis factor 10
  • Involved in peroxisome assembly
Clinical phenotype
(OMIM phenotype no.)
  • Peroxisome biogenesis disorder 7B (PBD7B) (#614870)
Inheritance
  • Autosomal recessive
Ocular features
  • Retinal dystrophy
Visual function
  • Progressive vision loss
Systemic features
  • Neurological impairment
  • Liver dysfunction
  • Skeletal abnormalities
Key investigations
  • Genetic testing: identification of PEX10 mutations
Management
  • Multidisciplinary management including neurology, hepatology, and ophthalmology
Therapies under research
  • None currently specified

Jump to top


References

  1. Messina-Baas O, Cuevas-Covarrubias SA. Inherited congenital cataract: a guide to suspect the genetic etiology in the cataract genesis. Molecular syndromology. 2017 Mar 7;8(2):58-78.

Jump to top

Updated on July 8, 2024
Was this article helpful?