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fragile X syndrome

Epidemiology: - fragile X syndrome is the 2nd most common genetic form of mental retardation (after Down's syndrome) - occurs in about 1/2000 births Genetics: - associated with folate-sensitive fragile site on the long arm of the X chromosome - associated with defects in FMR1 - the defect in most fragile X syndrome patients results from an amplification of a CGG repeat region which is directly in front of the coding region - > 200 CGC repeats in fragile X syndrome Clinical manifestations: - moderate to severe mental retardation - testicular enlargement - large ears - prominent jaw - high-pitched, jocular speech Laboratory: - Fragile X syndrome genotyping

Related

Fragile X syndrome genotyping

Specific

fragile X syndrome FRAXA site fragile X syndrome FRAXE site fragile X tremor/ataxia syndrome (FXTAS)

General

trinucleotide repeat expansion disease X-linked disease

Database Correlations

OMIM 300624

References

  1. Ross CA, McInnis MG, Margolis RL, Li SH. Genes with triplet repeats: candidate mediators of neuropsychiatric disorders. Trends Neurosci. 1993 Jul;16(7):254-60. Review. PMID: 7689767
  2. ARUP Consult: Fragile X Syndrome https://arupconsult.com/ati/fragile-x-syndrome