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Title: Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium
Authors: de Brouwer, Arjan P M ×
Yntema, Helger G
Kleefstra, Tjitske
Lugtenberg, Dorien
Oudakker, Astrid R
de Vries, Bert B A
van Bokhoven, Hans
Van Esch, Hilde
Frints, Suzanna
Froyen, Guido
Fryns, Jean-Pierre
Raynaud, Martine
Moizard, Marie-Pierre
Ronce, Nathalie
Bensalem, Anissa
Moraine, Claude
Poirier, Karine
Castelnau, Laetitia
Saillour, Yoann
Bienvenu, Thierry
Beldjord, Chérif
des Portes, Vincent
Chelly, Jamel
Turner, Gillian
Fullston, Tod
Gecz, Jozef
Kuss, Andreas W
Tzschach, Andreas
Jensen, Lars Riff
Lenzner, Steffen
Kalscheuer, Vera M
Ropers, Hans-Hilger
Hamel, Ben C J #
Issue Date: 12-Jan-2007
Publisher: John Wiley & Sons, Inc.
Series Title: Human Mutation vol:28 issue:2 pages:207-208
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.
URI: 
ISSN: 1059-7794
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Molecular Genetics Section (-)
Department of Human Genetics - miscellaneous
Clinical Genetics Section (-)
Human Genome Laboratory
Clinical Genetics
× corresponding author
# (joint) last author

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