PEX11B gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Peroxisomal biogenesis factor 11 beta
  • Involved in peroxisome proliferation and maintenance
Clinical phenotype
(OMIM phenotype no.)
  • Peroxisome biogenesis disorder 14B (PBD14B) (#614886)
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 PEX11B mutations
Management
  • Multidisciplinary management including neurology, hepatology, and ophthalmology
Therapies under research
  • None currently specified

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References

  1. Taylor RL, Handley MT, Waller S, Campbell C, Urquhart J, Meynert AM, Ellingford JM, Donnelly D, Wilcox G, Lloyd IC, Mundy H. Novel PEX11B mutations extend the peroxisome biogenesis disorder 14B phenotypic spectrum and underscore congenital cataract as an early feature. Investigative ophthalmology & visual science. 2017 Jan 1;58(1):594-603.
  2. Tsinopoulou VR, Fidani L, Giza S, Sakellari EI, Beslika A, Ntouma S, Gerou S, Galli-Tsinopoulou A. A Novel Mutation (c. 122T> A) of PEX11B Gene in a Female Adolescent with Congenital Cataract and Clubfoot. Journal of Pediatrics, Perinatology and Child Health. 2023;7(2):107-10.

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Updated on July 8, 2024
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