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  Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium

de Brouwer, A. P., Yntema, H. G., Kleefstra, T., Lugtenberg, D., Oudakker, A. R., de Vries, B. B. A., et al. (2007). Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Human Mutation, 28(2), 207-208. doi:10.1002/humu.9482.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-826D-7 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-826E-5
Genre: Journal Article
Alternative Title : Hum mut

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 Creators:
de Brouwer, Arjan P.M., Author
Yntema, Helger G., Author
Kleefstra, Tjitske, Author
Lugtenberg, Dorien, Author
Oudakker, Astrid R., Author
de Vries, Bert B. A., Author
van Bokhoven, Hans, Author
van Esch, Hilde, Author
Frints, Suzanne G. M., Author
Froyen, Guy, Author
Fryns, Jean-Pierre, Author
Raynaud, Martine, Author
Moizard, Marie-Pierre, Author
Ronce, Nathalie, Author
Bensalem, Anissa, Author
Moraine, Claude, Author
Poirier, Karine, Author
Castelnau, Laetitia, Author
Saillour, Yoann, Author
Bienvenu, Thierry, Author
Beldjord, Chérif, Authordes Portes, Vincent, AuthorChelly, Jamel, AuthorTurner, Gillian, AuthorFullston, Tod, AuthorGecz, Jozef, AuthorKuss, Andreas W.1, Author              Tzschach, Andreas2, Author              Jensen, Lars Riff3, Author              Lenzner, Steffen4, AuthorKalscheuer, Vera M.5, Author              Ropers, Hans-Hilger2, Author              Hamel, Ben C.J., Author more..
Affiliations:
1Familial Cognitive Disorders (Luciana Musante), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479644              
2Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
3Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
4Max Planck Society, ou_persistent13              
5Chromosome Rearrangements and Disease (Vera Kalscheuer), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479642              

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Free keywords: mental retardation • MRX • MRXS • X chromosome • brother pair families • mutation frequency
 Abstract: The EuroMRX family cohort consists of about 400 families with non-syndromic and 200 families with syndromic X-linked mental retardation (XLMR). After exclusion of Fragile X (Fra X) syndrome, probands from these families were tested for mutations in the coding sequence of 90 known and candidate XLMR genes. In total, 73 causative mutations were identified in 21 genes. For 42% of the families with obligate female carriers, the mental retardation phenotype could be explained by a mutation. There was no difference between families with (lod score >2) or without (lod score <2) significant linkage to the X chromosome. For families with two to five affected brothers (brother pair=BP families) only 17% of the MR could be explained. This is significantly lower (P=0.0067) than in families with obligate carrier females and indicates that the MR in about 40% (17/42) of the BP families is due to a single genetic defect on the X chromosome. The mutation frequency of XLMR genes in BP families is lower than can be expected on basis of the male to female ratio of patients with MR or observed recurrence risks. This might be explained by genetic risk factors on the X chromosome, resulting in a more complex etiology in a substantial portion of XLMR patients. The EuroMRX effort is the first attempt to unravel the molecular basis of cognitive dysfunction by large-scale approaches in a large patient cohort. Our results show that it is now possible to identify 42% of the genetic defects in non-syndromic and syndromic XLMR families with obligate female carriers

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Language(s): eng - English
 Dates: 2007-01-12
 Publication Status: Published in print
 Pages: -
 Publishing info: -
 Table of Contents: -
 Rev. Type: -
 Identifiers: eDoc: 333783
DOI: 10.1002/humu.9482
 Degree: -

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Title: Human Mutation
  Alternative Title : Hum mut
Source Genre: Journal
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Pages: - Volume / Issue: 28 (2) Sequence Number: - Start / End Page: 207 - 208 Identifier: ISSN: 1098-1004