ERCC2 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Excision repair cross-complementing rodent repair deficiency, complementation group 2 (XPD)
  • Involved in nucleotide excision repair (NER) and transcription-coupled repair
  • ATP-dependent 5’-3’ DNA helicase activity
Clinical phenotype
(OMIM phenotype no.)
  • Xeroderma pigmentosum, complementation group D (XP-D) (#278730)
  • Trichothiodystrophy, photosensitive (TTD) (#601675)
  • Cerebrooculofacioskeletal syndrome 2 (COFS2) (#216360)
Inheritance
  • Autosomal recessive
Ocular features
  • Photosensitivity
  • Retinal degeneration
  • Cataracts
Visual function
  • Progressive vision impairment due to retinal and lens changes
Systemic features
  • Skin abnormalities (e.g., freckling, atrophy)
  • Neurological impairment
  • Developmental delay
Key investigations
  • Genetic testing: identification of ERCC2 mutations
  • Clinical evaluation for skin, neurological, and developmental symptoms
Management
  • Protection from UV light
  • Regular monitoring by dermatology, neurology, and ophthalmology
  • Symptomatic treatment and supportive care
Therapies under research
  • None currently specified

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References

  1. Kunze S, Dalke C, Fuchs H, Klaften M, Rössler U, Hornhardt S, Gomolka M, Puk O, Sabrautzki S, Kulka U, Hrabě de Angelis M. New mutation in the mouse Xpd/Ercc2 gene leads to recessive cataracts. PLoS One. 2015 May 7;10(5):e0125304.

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Updated on July 8, 2024
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