Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure

Sandrine Caburet, Petra Zavadakova, Ziva Ben-Neriah, Kamal Bouhali, Aurélie Dipietromaria, Céline Charon, Céline Besse, Paul Laissue, Vered Chalifa-Caspi, Sophie Christin-Maitre, Daniel Vaiman, Giovanni Levi, Reiner A. Veitia, Marc Fellous

Resultado de la investigación: Contribución a RevistaArtículo

22 Citas (Scopus)

Resumen

Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients. Methodology/Principal Findings: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LOD max of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations. Conclusions/Significance: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function. © 2012 Caburet et al.
Idioma originalEnglish (US)
PublicaciónPLoS One
DOI
EstadoPublished - mar 13 2012

Huella dactilar

Primary Ovarian Insufficiency
Chromosomes, Human, Pair 7
Pedigree
Chromosomes
homozygosity
pedigree
linkage (genetics)
Genes
Genome
chromosomes
mutation
regulatory sequences
loci
genome
ovarian development
exons
etiology
inheritance (genetics)
genes
Exons

Citar esto

Caburet, Sandrine ; Zavadakova, Petra ; Ben-Neriah, Ziva ; Bouhali, Kamal ; Dipietromaria, Aurélie ; Charon, Céline ; Besse, Céline ; Laissue, Paul ; Chalifa-Caspi, Vered ; Christin-Maitre, Sophie ; Vaiman, Daniel ; Levi, Giovanni ; Veitia, Reiner A. ; Fellous, Marc. / Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure. En: PLoS One. 2012.
@article{cb3b3586d41c4855b0e09d65cb5ab6df,
title = "Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure",
abstract = "Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15{\%} are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90{\%} of the patients. Methodology/Principal Findings: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LOD max of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations. Conclusions/Significance: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function. {\circledC} 2012 Caburet et al.",
author = "Sandrine Caburet and Petra Zavadakova and Ziva Ben-Neriah and Kamal Bouhali and Aur{\'e}lie Dipietromaria and C{\'e}line Charon and C{\'e}line Besse and Paul Laissue and Vered Chalifa-Caspi and Sophie Christin-Maitre and Daniel Vaiman and Giovanni Levi and Veitia, {Reiner A.} and Marc Fellous",
year = "2012",
month = "3",
day = "13",
doi = "10.1371/journal.pone.0033412",
language = "English (US)",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",

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Caburet, S, Zavadakova, P, Ben-Neriah, Z, Bouhali, K, Dipietromaria, A, Charon, C, Besse, C, Laissue, P, Chalifa-Caspi, V, Christin-Maitre, S, Vaiman, D, Levi, G, Veitia, RA & Fellous, M 2012, 'Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure', PLoS One. https://doi.org/10.1371/journal.pone.0033412

Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure. / Caburet, Sandrine; Zavadakova, Petra; Ben-Neriah, Ziva; Bouhali, Kamal; Dipietromaria, Aurélie; Charon, Céline; Besse, Céline; Laissue, Paul; Chalifa-Caspi, Vered; Christin-Maitre, Sophie; Vaiman, Daniel; Levi, Giovanni; Veitia, Reiner A.; Fellous, Marc.

En: PLoS One, 13.03.2012.

Resultado de la investigación: Contribución a RevistaArtículo

TY - JOUR

T1 - Genome-wide linkage in a highly consanguineous pedigree reveals two novel loci on chromosome 7 for non-syndromic familial premature ovarian failure

AU - Caburet, Sandrine

AU - Zavadakova, Petra

AU - Ben-Neriah, Ziva

AU - Bouhali, Kamal

AU - Dipietromaria, Aurélie

AU - Charon, Céline

AU - Besse, Céline

AU - Laissue, Paul

AU - Chalifa-Caspi, Vered

AU - Christin-Maitre, Sophie

AU - Vaiman, Daniel

AU - Levi, Giovanni

AU - Veitia, Reiner A.

AU - Fellous, Marc

PY - 2012/3/13

Y1 - 2012/3/13

N2 - Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients. Methodology/Principal Findings: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LOD max of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations. Conclusions/Significance: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function. © 2012 Caburet et al.

AB - Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10-15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients. Methodology/Principal Findings: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LOD max of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations. Conclusions/Significance: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function. © 2012 Caburet et al.

U2 - 10.1371/journal.pone.0033412

DO - 10.1371/journal.pone.0033412

M3 - Article

JO - PLoS One

JF - PLoS One

SN - 1932-6203

ER -