Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology

Oscar Ortega-Recalde, Jéssica Inés Vergara, Dora Janeth Fonseca, Xiomara Ríos, Hernando Mosquera, Olga María Bermúdez, Claudia Liliana Medina, Clara Inés Vargas, Argemiro Enrique Pallares, Carlos Martín Restrepo, Paul Laissue

Research output: Articles / NotesScientific Articlepeer-review

21 Scopus citations


Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by extreme sensitivity to actinic pigmentation changes in the skin and increased incidence of skin cancer. In some cases, patients are affected by neurological alterations. XP is caused by mutations in 8 distinct genes (XPA through XPG and XPV). The XP-V (variant) subtype of the disease results from mutations in a gene (XPV, also named POLH) which encodes for Polη, a member of the Y-DNA polymerase family. Although the presence and severity of skin and neurological dysfunctions differ between XP subtypes, there are overlapping clinical features among subtypes such that the sub-type cannot be deduced from the clinical features.In this study, in order to overcome this drawback, we undertook whole-exome sequencing in two XP sibs and their father. We identified a novel homozygous nonsense mutation (c.897T>G, p.Y299X) in POLH which causes the disease. Our results demonstrate that next generation sequencing is a powerful approach to rapid determination of XP genetic etiology.

Original languageEnglish
Article numbere64692
JournalPLoS ONE
Issue number6
StatePublished - 3 Jun 2013


Dive into the research topics of 'Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology'. Together they form a unique fingerprint.

Cite this