Xeroderma Pigmentosa: Three New Cases with an In Depth Review of the Genetic and Clinical Characteristics of the Disease

Xeroderma Pigmentosa: Three New Cases with an In Depth Review of the Genetic and Clinical Characteristics of the Disease

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by hypersensitivity of the skin and eyes to UV-radiation as a result of a defect in one of eight genes. Seven genes (XPA-XPG) have a defect in Nucletoide Excision Repair (NER), while the eighth gene XPV has a defect in p...

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Bibliographic Details
Published in:Fetal and pediatric pathology Vol. 34; no. 2; pp. 120 - 127
Main Authors: Karass, Michael, Naguib, Mina M., Elawabdeh, Nancy, Cundiff, Caitlin A., Thomason, Jenna, Steelman, Charlotte Katherine, Cone, Ryan, Schwenkter, Ann, Jordan, Caroline, Shehata, Bahig M.
Format: Journal Article
Language:English
Published: New York Informa Healthcare 01-04-2015
Subjects:
autosomal recessive
Brain - pathology
Child
Child, Preschool
DNA Damage - genetics
DNA Repair - genetics
DNA Repair - physiology
Female
Humans
Mutation - genetics
nucleotide excision repair
xeroderma pigmentosum
Xeroderma Pigmentosum - diagnosis
Xeroderma Pigmentosum - genetics
Xeroderma Pigmentosum - pathology
xeroderma pigmentosum
autosomal recessive
nucleotide excision repair
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Summary:Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by hypersensitivity of the skin and eyes to UV-radiation as a result of a defect in one of eight genes. Seven genes (XPA-XPG) have a defect in Nucletoide Excision Repair (NER), while the eighth gene XPV has a defect in polymerase η, which is responsible for replication of UV-damaged DNA to produce corrected daughter strands. We present the varied clinical courses of three African-American female patients with XP. Additionally, we present a review of the literature that focuses on the various clinical manifestations as well as the genetic and molecular mechanisms underlying this disease.
Bibliography:ObjectType-Case Study-3
SourceType-Scholarly Journals-1
content type line 23
ObjectType-Review-1
ObjectType-Feature-5
ObjectType-Report-2
ObjectType-Article-4
ISSN:1551-3815
1551-3823
DOI:10.3109/15513815.2014.982336