RA Philibert, BH King, S Winfield, EH Cook, Y-H Lee, B Stubblefield, P Damschroder-Williams, C Dea, A Palotie, C Tengstrom, BM Martin, EI Ginns

X-Chromosome linked mental retardation affects approximately 1 in 300 males. Although the genetic causes for some of these cases have been discovered, the causes for the majority of the cases remain unidentified. In this article, the authors demonstrate the strong association of a 12 bp mutation in the coding portion of a newly described X-chromosome gene with X-linked mental retardation in several independent populations. Overall, this mutation was found in 7 percent of all institutionalized mentally retarded males surveyed. It was also found in higher frequency than expected in a group of males with Autism. Although it is not certain, the syndrome observed in these patients may result from the insertion of 4 amino acids into a region of this newly discovered gene that may have a role in neurodevelopment. Further studies are in progress to understand the relationship of this new mutation to mental retardation.

Contact author:

Robert A. Philibert
National Institute of Mental Health
Bethesda, Md., USA
tel: +1-301-496-0373
FAX: +1-301-402-6438
[email protected]

Pre-prints of this article may be obtained from Julie A. Vianello (Tel: 301-496-6979; FAX: 301-402-1561; [email protected])

This article will be published in the July 1998 (Volume 3, no. 4) issue of Molecular Psychiatry. This is a peer-reviewed medical journal published by MacMillan Press-Stockton Press.