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

Resultado de la investigación: Contribución a RevistaArtículo

18 Citas (Scopus)

Resumen

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. © 2013 Ortega-Recalde et al.
Idioma originalEnglish (US)
PublicaciónPLoS One
DOI
EstadoPublished - jun 3 2013

Huella dactilar

Exome
Xeroderma Pigmentosum
etiology
Skin
Genes
DNA-Directed DNA Polymerase
skin (animal)
Mutation
Nonsense Codon
nonsense mutation
mutation
Pigmentation
Skin Neoplasms
Fathers
DNA-directed DNA polymerase
fathers
pigmentation
ichthyosis
genes
Incidence

Citar esto

Ortega-Recalde, Oscar ; Vergara, Jéssica Inés ; Fonseca, Dora Janeth ; Ríos, Xiomara ; Mosquera, Hernando ; Bermúdez, Olga María ; Medina, Claudia Liliana ; Vargas, Clara Inés ; Pallares, Argemiro Enrique ; Restrepo, Carlos Martín ; Laissue, Paul. / Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology. En: PLoS One. 2013.
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title = "Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology",
abstract = "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. {\circledC} 2013 Ortega-Recalde et al.",
author = "Oscar Ortega-Recalde and Vergara, {J{\'e}ssica In{\'e}s} and Fonseca, {Dora Janeth} and Xiomara R{\'i}os and Hernando Mosquera and Berm{\'u}dez, {Olga Mar{\'i}a} and Medina, {Claudia Liliana} and Vargas, {Clara In{\'e}s} and Pallares, {Argemiro Enrique} and Restrepo, {Carlos Mart{\'i}n} and Paul Laissue",
year = "2013",
month = "6",
day = "3",
doi = "10.1371/journal.pone.0064692",
language = "English (US)",
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Ortega-Recalde, O, Vergara, JI, Fonseca, DJ, Ríos, X, Mosquera, H, Bermúdez, OM, Medina, CL, Vargas, CI, Pallares, AE, Restrepo, CM & Laissue, P 2013, 'Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology', PLoS One. https://doi.org/10.1371/journal.pone.0064692

Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology. / Ortega-Recalde, Oscar; Vergara, Jéssica Inés; Fonseca, Dora Janeth; Ríos, Xiomara; Mosquera, Hernando; Bermúdez, Olga María; Medina, Claudia Liliana; Vargas, Clara Inés; Pallares, Argemiro Enrique; Restrepo, Carlos Martín; Laissue, Paul.

En: PLoS One, 03.06.2013.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Whole-Exome Sequencing Enables Rapid Determination of Xeroderma Pigmentosum Molecular Etiology

AU - Ortega-Recalde, Oscar

AU - Vergara, Jéssica Inés

AU - Fonseca, Dora Janeth

AU - Ríos, Xiomara

AU - Mosquera, Hernando

AU - Bermúdez, Olga María

AU - Medina, Claudia Liliana

AU - Vargas, Clara Inés

AU - Pallares, Argemiro Enrique

AU - Restrepo, Carlos Martín

AU - Laissue, Paul

PY - 2013/6/3

Y1 - 2013/6/3

N2 - 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. © 2013 Ortega-Recalde et al.

AB - 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. © 2013 Ortega-Recalde et al.

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DO - 10.1371/journal.pone.0064692

M3 - Article

JO - PLoS One

JF - PLoS One

SN - 1932-6203

ER -