Uv-sensitive Syndrome 1; Uvss1

Description

UV-sensitive syndrome-1 is an autosomal recessive disorder characterized by cutaneous photosensitivity and mild freckling, without an increased risk of skin tumors. Patient cells show impaired recovery of RNA synthesis (RRS) after UV irradiation due to defective preferential repair of DNA damage in actively transcribing genes, although unscheduled DNA repair is normal. The cellular findings are consistent with a defect in transcription-coupled nucleotide excision repair (TC-NER) of UV damage (summary by Horibata et al., 2004). Genetic Heterogeneity of UV-Sensitive SyndromeSee also UVSS2 (OMIM ), caused by mutation in the ERCC8 gene (OMIM ) on chromosome 5q12, and UVSS3 (OMIM ), caused by mutation in the UVSSA gene (OMIM ) on chromosome 4p16.

Clinical Features

Phenotypes and symptoms related to Uv-sensitive Syndrome 1; Uvss1

  • Growth delay
  • Neoplasm
  • Abnormality of the nervous system
  • Dry skin
  • Cutaneous photosensitivity
  • Telangiectasia
  • Neoplasm of the skin
  • Freckling
  • Increased cellular sensitivity to UV light
  • Pigmentation anomalies of sun-exposed skin

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Uv-sensitive Syndrome 1; Uvss1 Recommended genes panels

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ERCC6. Complete sequencing.

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Pena-Shokeir syndrome type 2 (sequence analysis of ERCC6 gene).

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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