<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>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.</p></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.

The fragile X syndrome: 13 years of experience

Medical Genetics Clinic, Children's Clinical University Hospital, Juglas 20, Rīga, LV-1079, LATVIA

Rīga Stradiņš University, Dzirciema 16, R&iga, LV-1007, LATVIA

Proceedings of the Latvian Academy of Sciences. Section B. Natural, Exact, and Applied Sciences.

{"article-title":"The fragile X syndrome: 13 years of experience"}

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...

The fragile X syndrome: 13 years of experience

Pubblicato online: 15 feb 2012

Pagine: 67 - 72

DOI: https://doi.org/10.2478/v10046-011-0020-6

Parole chiave
fragile X syndrome, prevalence, FRAXA, FMR1, mental retardation

This content is open access.

The fragile X syndrome: 13 years of experience

Pubblicato online: 15 feb 2012

Pagine: 67 - 72

DOI: https://doi.org/10.2478/v10046-011-0020-6

Parole chiavefragile X syndrome, prevalence, FRAXA, FMR1, mental retardation

This content is open access.

Parole chiave
fragile X syndrome, prevalence, FRAXA, FMR1, mental retardation