http://www.cnr.it/ontology/cnr/individuo/prodotto/ID27206

Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. (Articolo in rivista)

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Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. (Articolo in rivista) (literal)

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Fujimoto M., Leech S.N., Theron T., Mori M., Fawcett H., Botta E., Nozaki Y., Yamagata T., Moriwaki S., Stefanini M., Momoi M.Y., Nakagawa H., Shuster S., Moss C. and Lehmann A.R. (2005)
Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features.
in Journal of investigative dermatology; Elsevier Science Inc., New York (Stati Uniti d'America)
(literal)

Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori

Fujimoto M., Leech S.N., Theron T., Mori M., Fawcett H., Botta E., Nozaki Y., Yamagata T., Moriwaki S., Stefanini M., Momoi M.Y., Nakagawa H., Shuster S., Moss C. and Lehmann A.R. (literal)

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Questo studio verte sulla caratterizzazione cellulare, genetica e molecolare di due nuovi pazienti con il fenotipo complesso XP/CS in cui i sintomi dello xeroderma pigmentosum (XP) sono associati a quelli della sindrome di Cockayne (CS). In entrambi i pazienti è stato osservato lo stesso allele mutato XPD associato in un caso con un allele XPD non espresso e nellaltro con un allele XPD letale. La diversa gravità dei sintomi clinici riportata nei due pazienti è risultata correlare con gradi diversi di alterazione nella risposta cellulare agli UV. (literal)

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Fujimoto, Momoi: Department of Dermatology, Jichi Medical School, Japan; Leech: Dermatology Department, Royal Victoria Infirmary, Newcastle, UK: Theron, Fawcett, Lehmann: Genome Damage and Stability Centre, University of Sussex, UK; Mori, Nozaki, Yamagata, Nakagawa: Department of Paediatrics, Jichi Medical School, Japan; Moriwaki: Photon Medical Center, Hamamatsu University School of Medicine, Japan; Shuster: Norfolk University, Norfolk, UK; Moss: Dermatology Department, Birmingham Childrens Hospital, Birmingham, UK; Botta, Stefanini: IGM-CNR, Pavia (literal)

Titolo

Two New XPD Patients Compound Heterozygous for the Same Mutation Demonstrate Diverse Clinical Features. (literal)

Abstract

Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are both rare autosomal recessive disorders with defects in DNA repair. They are usually distinct both clinically and genetically but in rare cases, patients exhibit the clinical characteristics of both diseases concurrently. We report two new phenotypically distinct cases of XP with additional features of CS (xeroderma pigmentosum and Cockayne syndrome crossover syndrome (XP/CS)) carrying an identical mutation (G47R) in the XPD gene within the N terminus of the protein. Both patients had clinical features of XP and CS but only one fulfilled most criteria for diagnosing CS. Unusually, patient 1 developed early skin cancer, in contrast to patient 2, who never developed any malignancies. Cells from both these patients have repair defects typical of xeroderma pigmentosum complementation group D (XPD) cells, but also had the phenotype of uncontrolled DNA breakage found specifically in XPD/CS cells and similarly reduced levels of TFIIH. Despite these similarities between our two patients, their clinical features are quite different and the clinical severity correlates with other cellular responses to ultraviolet irradiation. (literal)

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