A gene for nonsyndromic X-linked mental retardation (MRX77) maps to Xq12-Xq21.33The groups of The Cyprus Institute of Neurology and Genetics and the group of University of Ioannina contributed equally in this work.Carolina Sismani and Maria Syrrou have contributed equally to this work.

Autor: Sismani, Carolina, Syrrou, Maria, Christodoulou, Kyproula, Hamel, Ben, Chelly, Jamel, Yntema, Helger G., Bokhoven, Hans van, Tzoufi, Meropi, Georgiou, Ioannis, Patsalis, Philippos C.
Zdroj: American Journal of Medical Genetics. Part A; 15 September 2003, Vol. 122 Issue: 1 p46-50, 5p
Abstrakt: Nonsyndromic X-linked mental retardation (MRX) is a highly heterogeneous condition in which mental retardation appears to be the only consistent manifestation. According to the most recent data, 77 MRX families with a lod score of >2 have been mapped and eight genes have been cloned. We hereby report on a linkage analysis performed on a Greek family with apparently nonsyndromic MRX. The affected males have moderate to severe mental retardation, severe speech problems, and aggressive behavior. Two-point linkage analysis with 26 polymorphic markers spanning the entire X chromosome was carried out. We could assign the causative gene to a 27 Mb interval in Xq12-Xq21.33. The maximum LOD score was found for markers DXS1225, DXS8114, and DXS990 at 2.36, 2.06, 2.06, respectively at θ = 0.00. Recombination was observed for DXS983 at the proximal side and DXS6799 at the distal side. Nineteen other MRX families have been described with a partial overlapping disease gene interval in proximal Xq. No mutations were found in the MRX77 family for three known or candidate MRX genes, from this region OPHN1, RSK4, and ATR-X. These data indicate that the Xq12-Xq21.33 interval contains at least one additional MRX gene. © 2003 Wiley-Liss, Inc.
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