Fragile X syndrome in mentally retarded patients from Latvia

Z. Daneberga (Coresponding Author), Z. Krumina, B. Lace, D. Bauze, N. Pronina, R. Lugovska

Research output: Contribution to journalArticlepeer-review


The aim of this study was to estimate the prevalence of FXS in Latvia and characterise the FMR1 CGG-repeat structure in Latvian patients exhibiting mental retardation. A group of 352 unrelated patients with mental retardation (MR) referred from clinical geneticists was screened by PCR for the normal allele. In a sample of 245 chromosomes the CGG repeat number was determined by Applied Biosystems protocol on ABI Prism 310. Prevalence of 29, 30, and 31 CGG repeats was found for the normal allele. Five affected patients were detected (detection rate 2.56%). AGG in- terspersion pattern analysis showed stability of transmission to the next generation for 12 intermediate alleles. The found detection rate of FXS in our survey among MR patients was similar to the detection rate reported in literature. Taking into account the number of confirmed FXS cases we suggest that FXS is still clinically unrecognized in paediatrician practice.

Original languageEnglish
Pages (from-to)70-72
Number of pages3
JournalProceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
Issue number1-2
Publication statusPublished - 2009


  • FMR1
  • Fragile X
  • Mental retardation

Field of Science*

  • 3.1 Basic medicine
  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database


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