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Mind the GAP, Rho, Rab and GDI

Nature Genetics volume 19, pages 106–108 (1998)Cite this article

Mental retardation is a common phenotype that is caused by defects in a large number of genes--the updated McKusick catalogue of genes and phenotypes (OMIM; http://www3.ncbi.nlm.nih.gov/omim) responds with 828 entries when queried with "mental retardation". Mapping the position of the corresponding loci, the first step towards cloning of the genes involved, is much easier on the X chromosome because of the 'males only'-affected pedigrees. This translates to an inflated number of OMIM entries that cite the X chromosome, which contains approximately 3% of the human gene complement1. Considerable effort has been invested in the systematic identification of X-linked loci that segregate with non-specific mental retardation (MRX; ref. 2). The MRX phenotype is frequent; it affects approximately 1 in 500 males. Linkage analyses of more than 60 well-characterized MRX families, however, implicate at least a dozen loci, and until now, only one of these, the FMR2 gene, has been cloned3.

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Authors and Affiliations

  1. University of Geneva Medical School and Cantonal Hospital, Geneva, Switzerland

    Stylianos Antonarakis

  2. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, USA

    Linda Van Aelst

Authors
  1. Stylianos Antonarakis
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  2. Linda Van Aelst
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Antonarakis, S., Van Aelst, L. Mind the GAP, Rho, Rab and GDI. Nat Genet 19, 106–108 (1998). https://doi.org/10.1038/450

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