The fragile X syndrome: 13 years of experience

Zanda Daneberga, Zita Krumiņa, Baiba Lace, Daiga Bauze, Rita Lugovska

Research output: Contribution to journalArticlepeer-review

Abstract

Fragile X syndrome (FXS; MIM #300624; FRAXA, Xq27.3) is well known and a common cause of X-linked mental retardation. The syndrome is caused by dynamic mutation of FMR1 gene CpG island CGG repeats. Clinically FXS patients demonstrate delayed developmental milestones, particularly speech, attention-deficit/hyperactivity disorder, autistic features, and psychomotor development delay. Dysmorphic face and macroorchidism are important features in the postpubertal age. We present our 13-year experience with FXS patients who were confirmed by molecular diagnostic. Phenotype-genotype evaluation was made for 12 male FXS patients. Genotype-phenotype analysis did not reveal significant correlation between clinical symptoms observed in FXS patients and genotypes obtained from leucocytes DNA analysis. The prevalence of the fragile X syndrome in the Latvian male population was estimated to be 1/6428 (95% CI 5538-7552) or 15.55/100 000 males (95% CI 13.24 - 18.05). The prevalence of the fragile X syndrome among mentally retarded male patients was estimated to be 2.67%. The low number of diagnosed patients with fragile X syndrome demonstrated in our study led to the conclusion that fragile X syndrome is generally clinically unrecognised.

Translated title of the contributionThe fragile X syndrome: 13 years of experience
Original languageLatvian
Pages (from-to)67-72
Number of pages6
JournalProceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences
Volume65
Issue number3-4
DOIs
Publication statusPublished - 1 Jan 2011

Keywords

  • FMR1
  • fragile X syndrome
  • FRAXA
  • mental retardation
  • prevalence

Field of Science

  • 3.2 Clinical medicine

Publication Type

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

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