UV-sensitive syndrome

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UV-sensitive syndrome
Other namesUVSS
Autosomal recessive - en.svg
This condition is inherited in an autosomal recessive manner.
Specialty Dermatology

UV-sensitive syndrome is a cutaneous condition inherited in an autosomal recessive fashion, characterized by photosensitivity and solar lentigines. [1] Recent research identified that mutations of the KIAA1530 (UVSSA) gene as cause for the development of UV-sensitive syndrome. [2] Furthermore, this protein was identified as a new player in the Transcription-coupled repair (TC-NER). [2]

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See also

References

  1. ↑ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. p. 1342. ISBN   978-1-4160-2999-1.
  2. 1 2 Schwertman P., Marteijn JA.; Lagarou A; Dekkers DH; Raams A; van der Hoek AC; Laffeber C; Hoeijmakers JH; Demmers JA; Fousteri M; Vermeulen W (May 2012). "UV-sensitive syndrome protein UVSSA recruits USP7 to regulate transcription-coupled repair". Nat. Genet. 44 (5): 598–602. doi:10.1038/ng.2230. PMID   22466611. S2CID   5486230.

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