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Wiley, Human Mutation: Variation, Informatics and Disease, 2(28), p. 207-208, 2007

DOI: 10.1002/humu.9482

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

Journal article published in 2007 by A. P. M. de Brouwer, Arjan P. M. de Brouwer, Helger G. Yntema, Tjitske Kleefstra, Dorien Lugtenberg, Astrid R. Oudakker, Bert B. A. de Vries, Hans van Bokhoven, B. de Vries, Hilde Van Esch ORCID, J. H. L. M. van Bokhoven ORCID, Suzanne G. M. Frints, Guy Froyen, Jean-Pierre Fryns, Martine Raynaud and other authors.
This paper was not found in any repository, but could be made available legally by the author.
This paper was not found in any repository, but could be made available legally by the author.

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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