UV-sensitive syndrome 2(UVSS2)

MedGen UID:: 766212
•Concept ID:: C3553298
•: Disease or Syndrome

Synonym:	UVSS2

Gene (location): Gene(s) directly associated with this condition or phenotype.	ERCC8 (5q12.1)

Monarch Initiative:	MONDO:0013829
OMIM®:	614621

Definition

UV-sensitive syndrome-2 (UVSS2) is an autosomal recessive disorder characterized by cutaneous photosensitivity and increased 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 Nardo et al., 2009). See also Cockayne syndrome type A (CSA; 216400), an allelic disorder with a more severe phenotype including neurologic symptoms and skeletal abnormalities. For a general phenotypic description and a discussion of genetic heterogeneity of UVSS, see UVSS1 (600630). [from OMIM]

Additional description

From MedlinePlus Genetics
UV-sensitive syndrome is a condition that is characterized by sensitivity to the ultraviolet (UV) rays in sunlight. Even a small amount of sun exposure can cause a sunburn in affected individuals. In addition, these individuals can have freckles, dryness, or changes in coloring (pigmentation) on sun-exposed areas of skin after repeated exposure. Some people with UV-sensitive syndrome have small clusters of enlarged blood vessels just under the skin (telangiectasia), usually on the cheeks and nose. Although UV exposure can cause skin cancers, people with UV-sensitive syndrome do not have an increased risk of developing these forms of cancer compared with the general population. https://medlineplus.gov/genetics/condition/uv-sensitive-syndrome

Clinical features

From HPO

Abnormal circulating porphyrin concentration

MedGen UID:: 869387
•Concept ID:: C4023814
•: Finding

An abnormality in the synthesis or catabolism of heme. Heme is composed of ferrous iron and protoporphyrin IX and is an essential molecule as the prosthetic group of hemeproteins such as hemoglobin, myoglobin, mitochondrial and microsomal cytochromes.

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Freckling

MedGen UID:: 5272
•Concept ID:: C0016689
•: Finding

The presence of an increased number of freckles, small circular spots on the skin that are darker than the surrounding skin because of deposits of melanin.

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Cutaneous photosensitivity

MedGen UID:: 87601
•Concept ID:: C0349506
•: Pathologic Function

An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin.

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Increased cellular sensitivity to UV light

MedGen UID:: 346648
•Concept ID:: C1857707
•: Finding

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Abnormal cellular phenotype
- Increased cellular sensitivity to UV light
Abnormality of metabolism/homeostasis
- Abnormal circulating porphyrin concentration
Abnormality of the integument
- Cutaneous photosensitivity
- Freckling

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVUV-sensitive syndrome 2

Pathological Conditions, Signs and Symptoms
- Pathological process
  - Disease
    - Syndromic disease
      - UV-sensitive syndrome 2

Recent clinical studies

Etiology

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.

Brambullo T, Colonna MR, Vindigni V, Piaserico S, Masciopinto G, Galeano M, Costa AL, Bassetto F
Biomed Res Int 2022;2022:8549532. Epub 2022 Jul 18 doi: 10.1155/2022/8549532. PMID: 35898688 Free PMC Article

Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state.

Sin Y, Makimura F, Saijo M, Obika S
Biochem Biophys Res Commun 2018 Jun 2;500(2):163-169. Epub 2018 Apr 9 doi: 10.1016/j.bbrc.2018.04.015. PMID: 29625109

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Wang X, Huang Y, Yan M, Li J, Ding C, Jin H, Fang F, Yang Y, Wu B, Chen D
Sci Rep 2017 Oct 20;7(1):13686. doi: 10.1038/s41598-017-14034-3. PMID: 29057985 Free PMC Article

See all (3)

Diagnosis

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.

Generation of splice switching oligonucleotides targeting the Cockayne syndrome group B gene product in order to change the diseased cell state.

Sin Y, Makimura F, Saijo M, Obika S
Biochem Biophys Res Commun 2018 Jun 2;500(2):163-169. Epub 2018 Apr 9 doi: 10.1016/j.bbrc.2018.04.015. PMID: 29625109

Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.

Wang X, Huang Y, Yan M, Li J, Ding C, Jin H, Fang F, Yang Y, Wu B, Chen D
Sci Rep 2017 Oct 20;7(1):13686. doi: 10.1038/s41598-017-14034-3. PMID: 29057985 Free PMC Article

Oxidative and energy metabolism as potential clues for clinical heterogeneity in nucleotide excision repair disorders.

Hosseini M, Ezzedine K, Taieb A, Rezvani HR
J Invest Dermatol 2015 Feb;135(2):341-351. Epub 2014 Oct 9 doi: 10.1038/jid.2014.365. PMID: 25296907

See all (4)