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X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: The European XLMR consortium

✍ Scribed by des Portes, Vincent; Beldjord, Ch�rif; Chelly, Jamel; Hamel, Ben; Kremer, Hannie; Smits, Arie; van Bokhoven, Hans; Ropers, Hans-Hilger; Claes, Stephan; Fryns, Jean Pierre; Ronce, Nathalie; Gendrot, Chantal; Toutain, Annick; Raynaud, Martine; Moraine, Claude

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 33 KB
Volume: 85
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990730)85:3<263::aid-ajmg15>3.0.co;2-0

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✦ Synopsis

The identification of X-linked mental retardation genes (XLMR) represents a challenge of considerable medical importance, given the reported high cumulative frequency of this heterogenous disorder, estimated at approximately 1/600 male births. Whereas pooling families is useful to fine-map genetic loci in syndromic forms (MRXS), each nonspecific (MRX) family must be studied separately because of the genetic heterogeneity and the absence of specific clinical findings. Nevertheless, pooling mapping data of different MRX families is useful to define a limited number of critical regions involved in nonspecific MR and to target candidate genes.

To this end, a collaborative European XLMR consortium (Leuven, Nijmegen, Paris, Tours) was set up and collected, up to now, clinical and genetic data concerning 25 unrelated MRX families. All these families have been localized with significant LOD scores ജ2 (except for MRX36, Z max ‫,)79.1ס‬ within genetic intervals spanning the whole X chromosome (Fig. 1 andTable I); the nonoverlapping intervals allowed us to define seven to eight critical regions involved in nonspecific X-linked

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