Trauslas X hromosomas sindroms : 13 gadu pieredze
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Date
2011-01-01
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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.
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Funding Information: The study was approved by the Latvian Central Medical Ethics Committee and the Rîga Stradiòð University Medical Ethics Committee, and supported by ESF project No. 2009/ 0147/1DP/1.1.2.1.2/09/IPIA/VIAA/009.
Keywords
FMR1, fragile X syndrome, FRAXA, mental retardation, prevalence, 3.2 Clinical medicine, 1.1. Scientific article indexed in Web of Science and/or Scopus database, General
Citation
Daneberga, Z, Krumiņa, Z, Lace, B, Bauze, D & Lugovska, R 2011, 'Trauslas X hromosomas sindroms : 13 gadu pieredze', Proceedings of the Latvian Academy of Sciences, Section B: Natural, Exact, and Applied Sciences, vol. 65, no. 3-4, pp. 67-72. https://doi.org/10.2478/v10046-011-0020-6