Skip to main content
Log in

Screening with the FMR1 protein test among mentally retarded males

  • Original investigation
  • Published:
Human Genetics Aims and scope Submit manuscript

Abstract

The fragile X syndrome is characterized by X-linked mental retardation with additional features such as a long face with large protruding ears, macroorchidism, and eye-gaze avoidance. The disorder is caused by an abnormally expanded CGG repeat within the first exon of the fragile X mental retardation (FMR1) gene that is associated with shutdown of transcription and absence of the fragile X mental retardation protein (FMRP). Detection of patients and carriers of the fragile X syndrome is done by DNA analysis of the CGG repeat, whereas the FMRP antibody test allows rapid detection of male patients using bloodsmears. In a screening program for the fragile X syndrome in the southwest of the Netherlands, 412 males with mental retardation of unknown cause were subjected to the protein test. The patients were scored for fragile X features and their DNA tested for the FMR1 mutation, as reported previously. The FMRP test detected two fragile X patients with a repeat expansion in FMR1, whereas normal protein expression was observed in all the retarded male patients with a normal repeat. The FMRP test was found to be suitable for screening among a large population of retarded males. The results also suggest that mutations other than the CGG repeat leading to absence of detectable FMRP are apparently rare among mentally retarded males.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Author information

Authors and Affiliations

Authors

Additional information

Received: 22 April 1998 / Accepted: 5 June 1998

Rights and permissions

Reprints and permissions

About this article

Cite this article

de Vries, B., Mohkamsing, S., van den Ouweland, A. et al. Screening with the FMR1 protein test among mentally retarded males. Hum Genet 103, 520–522 (1998). https://doi.org/10.1007/s004390050860

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s004390050860

Keywords

Navigation