Clinical utility gene card for: Xeroderma pigmentosum

Photoderm Photoimm Photomed

Rieper

Ohlenbusch

et al. 2016

Self Cite

Section: Discussionsupporting

confidence: 80%

A unique chromosomal in‐frame deletion identified among seven XP‐C patients

Photoderm Photoimm Photomed

Rieper

Ohlenbusch

et al. 2016

Self Cite

“…The experiment was performed at least three times in quadruplicates. All patient cells show severely reduced post‐ UV ‐cell survival with a LD 50 value at 5 J/m UVC irradiation.…”

Section: Resultsmentioning

confidence: 97%

“…The nucleotide excision repair (NER) pathway almost exclusively eliminates UV‐induced DNA photoproducts . To date, seven xeroderma pigmentosum (XP) complementation groups (XP‐A to XP‐G) according to the respective mutated XP genes ( XPA‐XPG ) and a variant form (XP‐V) with a defect in translesion synthesis ( PolH gene encodes for polymerase η) have been identified . More recently, quite complex genotype–phenotype correlations evolved.…”

Section: Introductionmentioning

confidence: 99%

“…1 To date, seven xeroderma pigmentosum (XP) complementation groups (XP-A to XP-G) according to the respective mutated XP genes (XPA-XPG) and a variant form (XP-V) with a defect in translesion synthesis (PolH gene encodes for polymerase g) have been identified. 2 More recently, quite complex genotype-phenotype correlations evolved. The human XPA gene (OMIM: 278700) encodes for a 273 amino acid (aa) protein, is composed of six exons, and is located on chromosome number nine (9q34.1).…”

Section: Introductionmentioning

confidence: 99%

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A novel mutation in the XPA gene results in two truncated protein variants and leads to a severe XP/neurological symptoms phenotype

Lehmann

Schäfer

et al. 2014

Acad Dermatol Venereol

“…So far, seven different clinical XP complementation groups have been identified, XP‐A to XP‐G (mutations in genes XPA–XPG ). By contrast, XP Variant patients, representing approximately 10 % of all XP patients, display mutations in the translesional polymerase η gene ( Pol H ) .…”

Section: Dna Repairmentioning

confidence: 99%

Xeroderma pigmentosum: Diagnostic procedures, interdisciplinary patient care, and novel therapeutic approaches

Lehmann

J Deutsche Derma Gesell

Emmert

2014

Self Cite

SummaryXeroderma pigmentosum (XP) is an autosomal recessive disease, caused by a gene defect in the nucleotide-excision-repair (NER) pathway or in translesional DNA synthesis. At the age of eight, patients already develop their first skin cancers due to this DNA repair defect. In contrast, in the Caucasian population the first tumor formation in UV exposed skin regions occurs at a mean age of 60. The clinical picture among patients suffering from XP is highly diverse and includes signs of accelerated skin aging, and UV-induced skin cancers, as well as ophthalmologic and neurological symptoms. Patients should therefore receive interdisciplinary care. This includes dermatologists, ophthalmologists, ENT specialists, neurologists, and human geneticists. Patients with XP are clinically diagnosed, but this may be supported by molecular-genetic and functional analyses. These analyses allow pinpointing the exact disease-causing gene defect (complementation group assignment, detection of the type and location of the mutation within the gene). The resulting information is already relevant to predict the course of disease and symptoms and probably will be utilized for individualized therapeutic approaches in the future. Recently, enhanced repair of UV photolesions in xeroderma pigmentosum group C cells induced by translational readthrough of premature termination codons by certain antibiotics could be demonstrated.