Skip to main content
Log in

MECP2 mutation screening in Swedish classical Rett syndrome females

  • ORIGINAL CONTRIBUTION
  • Published:
European Child & Adolescent Psychiatry Aims and scope Submit manuscript

Abstract

 Rett syndrome (RS) is a neurodevelopmental disorder almost exclusively affecting females. We have studied the mutation spectrum of the responsible gene MECP2, encoding methyl-CpG-binding protein 2 (MeCP2), in 16 sporadic classical RS females from Sweden. In 13 of 16 patients (81%) we detected nonsense or missense mutations in the coding parts of MECP2. This mutation rate is in agreement with other reports (65–80%). In all, 12 different mutations and one polymorphism were found; three of the mutations have not been reported previously. The missense mutations were restricted to highly conserved regions of the gene. None of the mutations was detected in parents; thus, they had probably arisen de novo. In contrast, two normal variants, one intron deletion and one silent mutation, were seen singly only in two patients' mothers; neither has been reported previously. One patient showed two different mutations closely located, i.e. 802C > T (R268W) together with 808C > T (R270X). Another patient had a mutation in the stop codon 1459T > C (X487R), leading to a gene product prolonged with 27 amino acids. In conclusion, our results indicate that the majority of Swedish RS patients (81%) have mutations in MECP2 that are sporadic cases with de novo mutations. Moreover, both missense and nonsense mutations occur, but in different parts of the gene, probably reflecting the function of the domains in MeCP2. This study has improved our ability to offer these families an early confirmation of Rett diagnoses.

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

Accepted: 6 December 2000

Rights and permissions

Reprints and permissions

About this article

Cite this article

Erlandson, A., Hallberg, B., Hagberg, B. et al. MECP2 mutation screening in Swedish classical Rett syndrome females. European Child & Adolescent Psychiatry 10, 117–121 (2001). https://doi.org/10.1007/s007870170034

Download citation

  • Issue Date:

  • DOI: https://doi.org/10.1007/s007870170034

Navigation