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XLMR genes: update 1998.

H Lubs1, P Chiurazzi, J Arena

  • 1University of Miami, Florida, USA.

American Journal of Medical Genetics
|April 20, 1999
PubMed
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Significant advancements have been made in understanding X-linked mental retardation (XLMR) with new gene discoveries and mapped locations. The total number of known XLMR syndromes and families has substantially increased.

Area of Science:

  • Genetics
  • Neurodevelopmental Disorders
  • Human Molecular Genetics

Background:

  • Progress in identifying genes for specific X-linked mental retardation (XLMR) syndromes like Coffin-Lowry, Mohr-Tranebjaerg, and Opitz G/BBB since 1995.
  • Recognition of Jensen syndrome as allelic to Mohr-Tranebjaerg syndrome.

Purpose of the Study:

  • To provide an updated overview of the genetic landscape of XLMR.
  • To document newly identified XLMR syndromes, metabolic/neuromuscular disorders, and chromosomal localizations.
  • To track the increasing number of families with non-specific XLMR (MRX).

Main Methods:

  • Gene cloning and mapping of XLMR loci.
  • Genetic analysis of families with non-specific mental retardation (MRX).
  • Compilation and update of the X chromosome map for XLMR.

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Main Results:

  • Cloning of genes for Coffin-Lowry, Mohr-Tranebjaerg, and Opitz G/BBB syndromes.
  • Identification of 20 new XLMR syndromes and 24 new chromosomal localizations.
  • Reporting of 58 families with non-specific XLMR, including 18 new MRX families, with two found to have RABGDIA gene mutations.
  • Addition of 41 entries to the XLMR map, bringing the total known syndromes and MRX families to 178.
  • Mapping of 53 out of 120 known XLMR disorders, with 22 cloned.

Conclusions:

  • The number of known XLMR syndromes and MRX families has significantly increased.
  • Continued genetic research is crucial for further understanding and mapping XLMR loci.
  • The precise number of loci for non-specific XLMR remains to be determined due to potential allelism.