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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Two new XPD patients compound heterozygous for the same mutation demonstrate diverse clinical features
Journal of Investigative Dermatology, Volume 125, No. 1, Year 2005
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Description
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 phenotyplcally 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. Copyright © 2004 by The Society for Investigative Dermatology, Inc.
Authors & Co-Authors
Fujimoto, Mitsuo
Japan, Kawachi District
Jichi Medical University
Leech, Suzanne N.
United Kingdom, Newcastle
Royal Victoria Infirmary
Theron, Therina
United Kingdom, Brighton
Genome Damage and Stability Centre
South Africa, Cape Town
University of Cape Town
Mori, Masato
Italy, Rome
Consiglio Nazionale Delle Ricerche
Fawcett, Heather
United Kingdom, Brighton
Genome Damage and Stability Centre
Botta, Elena
Japan, Kawachi District
Jichi Medical University
Nozaki, Yasuyuki
Italy, Rome
Consiglio Nazionale Delle Ricerche
Yamagata, Takanori
Italy, Rome
Consiglio Nazionale Delle Ricerche
Moriwaki, Shin Ichi
Japan, Hamamatsu
Hamamatsu University School of Medicine
Stefanini, Miria
Japan, Kawachi District
Jichi Medical University
Momoi, Mariko Y.
Italy, Rome
Consiglio Nazionale Delle Ricerche
Nakagawa, Hidemi
Japan, Kawachi District
Jichi Medical University
Shuster, Sam
United Kingdom
Norfolk University
Moss, Celia
United Kingdom, Birmingham
Birmingham Children's Hospital
Lehmann, Alan R.
United Kingdom, Brighton
Genome Damage and Stability Centre
Statistics
Citations: 30
Authors: 15
Affiliations: 8
Identifiers
Doi:
10.1111/j.0022-202X.2005.23745.x
ISSN:
0022202X
e-ISSN:
15231747
Research Areas
Cancer
Genetics And Genomics
Health System And Policy