Localization of non specific x-linked mental retardation gene (MRX73) to Xp22.2

Martinez, F., Martinez Garay, Isabel ORCID: https://orcid.org/0000-0001-6849-7496, Milan, J. M., Perez-Aytes, A., Molto, M. D., Orellano, C. and Prieto, F. 2001. Localization of non specific x-linked mental retardation gene (MRX73) to Xp22.2. American Journal of Medical Genetics 102 (2) , pp. 200-204. 10.1002/ajmg.1416

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Abstract

Clinical and molecular studies are reported on a family (MRX73) of five males with non-specific X-linked mental retardation (XLMR). A total of 33 microsatellite and RFLP markers was typed. The gene for this XLMR condition was been linked to DXS1195, with a lod score of 2.36 at theta = 0. The haplotype and multipoint linkage analyses suggest localization of the MRX73 locus to an interval of 2 cM defined by markers DXS8019 and DXS365, in Xp22.2. This interval contains the gene of Coffin-Lowry syndrome (RSK2), where a missense mutation has been associated with a form of non-specific mental retardation. Therefore, a search for RSK2 mutations was performed in the MRX73 family, but no causal mutation was found. We hypothesize that another unidentified XLMR gene is located near RSK2.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Biosciences
Subjects:	Q Science > QH Natural history > QH426 Genetics
Uncontrolled Keywords:	X-linked mental retardation; MRX; linkage analysis; microsatellite; Xp22.2; RSK2; Coffin-Lowry syndrome; dystrophin
Publisher:	Wiley-Blackwell
ISSN:	0148-7299
Last Modified:	28 Oct 2022 08:42
URI:	https://orca.cardiff.ac.uk/id/eprint/71784

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