Partial duplications of the ATRX gene cause the ATR-X syndrome

Bernard Thienpont; Thomy de Ravel; Hilde Van Esch; Dominique Van Schoubroeck; Philippe Moerman; Joris Robert Vermeesch; Jean-Pierre Fryns; Guy Froyen; Caroline Lacoste; Catherine Badens; Koen Devriendt

doi:10.1038/sj.ejhg.5201878

Partial duplications of the ATRX gene cause the ATR-X syndrome

Bernard Thienpont, Thomy de Ravel, Hilde Van Esch, Dominique Van Schoubroeck, Philippe Moerman, Joris Robert Vermeesch, Jean-Pierre Fryns, Guy Froyen, Caroline Lacoste, Catherine Badens, Koen Devriendt

Onderzoeksoutput: Article › peer review

33 Citaten (Scopus)

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ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

Originele taal-2	English
Pagina's (van-tot)	1094-7
Aantal pagina's	4
Tijdschrift	European Journal of Human Genetics
Volume	15
Nummer van het tijdschrift	10
DOI's	https://doi.org/10.1038/sj.ejhg.5201878
Status	Published - 2007

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title = "Partial duplications of the ATRX gene cause the ATR-X syndrome",

abstract = "ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.",

keywords = "DNA Helicases/genetics, DNA Mutational Analysis, Gene Duplication, Humans, Infant, Infant, Newborn, Male, Mental Retardation, X-Linked/genetics, Mutation, Nuclear Proteins/genetics, Phenotype, RNA, Messenger/genetics, Syndrome, X-linked Nuclear Protein, alpha-Thalassemia/genetics",

author = "Bernard Thienpont and {de Ravel}, Thomy and {Van Esch}, Hilde and {Van Schoubroeck}, Dominique and Philippe Moerman and Vermeesch, {Joris Robert} and Jean-Pierre Fryns and Guy Froyen and Caroline Lacoste and Catherine Badens and Koen Devriendt",

year = "2007",

doi = "10.1038/sj.ejhg.5201878",

language = "English",

volume = "15",

pages = "1094--7",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "10",

}

TY - JOUR

T1 - Partial duplications of the ATRX gene cause the ATR-X syndrome

AU - Thienpont, Bernard

AU - de Ravel, Thomy

AU - Van Esch, Hilde

AU - Van Schoubroeck, Dominique

AU - Moerman, Philippe

AU - Vermeesch, Joris Robert

AU - Fryns, Jean-Pierre

AU - Froyen, Guy

AU - Lacoste, Caroline

AU - Badens, Catherine

AU - Devriendt, Koen

PY - 2007

Y1 - 2007

N2 - ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

AB - ATR-X syndrome is a rare syndromic X-linked mental retardation disorder. We report that some of the patients suspected of ATR-X carry large intragenic duplications in the ATRX gene, leading to an absence of ATRX mRNA and of the protein. These findings underscore the need for including quantitative analyses to mutation analysis of the ATRX gene.

KW - DNA Helicases/genetics

KW - DNA Mutational Analysis

KW - Gene Duplication

KW - Humans

KW - Infant

KW - Infant, Newborn

KW - Male

KW - Mental Retardation, X-Linked/genetics

KW - Mutation

KW - Nuclear Proteins/genetics

KW - Phenotype

KW - RNA, Messenger/genetics

KW - Syndrome

KW - X-linked Nuclear Protein

KW - alpha-Thalassemia/genetics

U2 - 10.1038/sj.ejhg.5201878

DO - 10.1038/sj.ejhg.5201878

M3 - Article

C2 - 17579672

SN - 1018-4813

VL - 15

SP - 1094

EP - 1097

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -

Partial duplications of the ATRX gene cause the ATR-X syndrome

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