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PubMed · 8826465

XLMR genes: update 1996.

H A Lubs·P Chiurazzi·J F Arena·C Schwartz·L Tranebjaerg·G Neri
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Abstract

A current list of all known forms of X-linked mental retardation (XLMR) and a slightly revised classification are presented. The number of known disorders has not increased because 6 disorders have been combined based on new molecular data or on clinical grounds and only 6 newly described XLMR disorders have been reported. Of the current 105 XLMR disorders, 34 have been mapped, and 18 disorders and 1 nonspecific XLMR (FRAXE) have been cloned. The number of families with nonspecific XLMR with a LOD score of > or = 2.0 has more than doubled, with 42 (including FRAXE) now being known. a summary of the localization of presumed nonspecific mental retardation (MR) genes from well-studied X-chromosomal translocations and deletions is also included. Only 10-12 nonoverlapping loci are required to explain all localizations of nonspecific MR from both approaches. These new trends mark the beginning of a significantly improved understanding of the role of genes on the X chromosome in producing MR. Continued close collaboration between clinical and molecular investigators will be required to complete the process.

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Chromosome MappingCloning, MolecularGenetic Diseases, InbornGenetic LinkageHumansIntellectual DisabilityX ChromosomeJournal ArticleResearch Support, U.S. Gov't, P.H.S.Review

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H A Lubs, P Chiurazzi, J F Arena, C Schwartz, L Tranebjaerg, G Neri. 1996-07-12. XLMR genes: update 1996.. https://doi.org/10.1002/(sici)1096-8628(19960712)64%3A1%3C147%3A%3Aaid-ajmg25%3E3.0.co%3B2-m

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