Xeroderma pigmentosum group C in a French Caucasian patient with multiple melanoma and unusual long-term survival

The British Journal of Dermatology
S JacobelliI Gorin

Abstract

We report the case of an 83-year-old French woman with multiple melanomas showing a severe DNA repair deficiency, corrected after transfection by XPC cDNA. Two biallelic mutations in the XPC gene are reported: an inactivating frameshift mutation in exon 15 (c.2544delG, p.W848X) and a missense mutation in exon 11 (c.2108 C>T, P703L). We demonstrate that these new mutations are involved in the DNA repair deficiency and confirm the diagnosis of xeroderma pigmentosum from complementation group C (XP-C). We speculate that the coexistence of a MC1R variant may be involved in the phenotype of multiple melanomas and that the unusual long-term survival may be related to a lower ultraviolet radiation exposure and to a regular clinical follow-up. This patient appears to be the first French Caucasian XP-C case and one of the oldest living patients with XP reported worldwide.

References

Nov 1, 1992·The British Journal of Dermatology·A SarasinY Dumez
Aug 1, 1984·Journal of the American Academy of Dermatology·G D TullisW D Stewart
Aug 1, 1994·Der Hautarzt; Zeitschrift für Dermatologie, Venerologie, und verwandte Gebiete·R Fölster-HolstE Christophers
Mar 20, 2002·Biochimie·Anne Stary, Alain Sarasin
Jul 10, 2003·Annals of the New York Academy of Sciences·R A SturmN G Martin
Jul 19, 2003·Human Gene Therapy·Catherine Arnaudeau-BégardThierry Magnaldo
Nov 10, 2004·Photodermatology, Photoimmunology & Photomedicine·Eugene Healy
Sep 23, 2006·The Journal of Investigative Dermatology·James E CleaverPeggy Tuttle
Sep 21, 2007·Nature·Jung-Hyun Min, Nikola P Pavletich

❮ Previous
Next ❯

Citations

Nov 13, 2013·Proceedings of the National Academy of Sciences of the United States of America·Christiane KuschalKenneth H Kraemer
Jan 8, 2010·The Journal of Investigative Dermatology·Nadem SoufirAlain Sarasin
Jul 14, 2010·International Journal of Dermatology·Jung Ah MinHyun Jeong Park

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.