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Advances in X-linked mental retardation.

Roger E Stevenson¹

¹Greenwood Genetic Center, Greenwood, South Carolina 29646, USA. res@ggc.org

Current Opinion in Pediatrics

|November 12, 2005

Summary

Genetic mutations on the X chromosome are a significant cause of mental retardation. Recent advances in molecular genetics have improved diagnosis and prevention strategies for X-linked mental retardation.

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Area of Science:

Genetics
Molecular Biology
Medical Research

Background:

X-linked mental retardation (XLMR) is a significant cause of intellectual disability, rivaling chromosomal aberrations.
Progress in understanding autosomal mental retardation lags behind XLMR due to challenges in studying autosomal gene mutations.
The identification of large families with X-linked inheritance patterns and the ease of studying male hemizygosity have accelerated XLMR research.

Purpose of the Study:

To review the clinical and molecular progress in understanding X-linked mental retardation.
To highlight the identification of genes associated with syndromal and nonsyndromal XLMR.
To discuss the impact of molecular advances on diagnosis and prevention.

Main Methods:

Literature review of clinical and molecular studies on X-linked mental retardation.
Analysis of gene identification data for syndromal and nonsyndromal XLMR.
Synthesis of findings regarding the clinical and molecular delineation of XLMR.

Main Results:

Approximately one-third of estimated syndromal XLMR genes and one-fourth of nonsyndromal XLMR genes have been identified.
The same gene can be responsible for both syndromal and nonsyndromal forms of XLMR.
Molecular delineation has led to reclassification of some conditions based on allelism and distinguished others with similar clinical presentations.

Conclusions:

Clinical and molecular advances have significantly improved the delineation of XLMR.
Laboratory testing for XLMR is now more reliable.
These advances enable carrier testing, prenatal diagnosis, and the development of prevention strategies for XLMR.

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