Article
Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium.
Human mutation - 1 Feb 2007
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 Suzanne G M, Froyen Guy, 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
Abstract excerpt
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...
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