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Publication year
2003Source
American Journal of Medical Genetics, 122A, 1, (2003), pp. 46-50ISSN
Publication type
Article / Letter to editor

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Organization
Human Genetics
Journal title
American Journal of Medical Genetics
Volume
vol. 122A
Issue
iss. 1
Page start
p. 46
Page end
p. 50
Subject
UMCN 5.1: Genetic defects of metabolismAbstract
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 theta = 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.
This item appears in the following Collection(s)
- Academic publications [227425]
- Electronic publications [107155]
- Faculty of Medical Sciences [86157]
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