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Article

High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.

American journal of medical genetics. Part A - 1 Sept 2015

Basuta Kirin, Schneider Andrea, Gane Louise, Polussa Jonathan, Woodruff Bryan, Pretto Dalyir, Hagerman Randi, Tassone Flora

Abstract excerpt

Fragile X syndrome (FXS) affects individuals with more than 200 CGG repeats (full mutation) in the fragile X mental retardation 1 (FMR1) gene. Those born with FXS experience cognitive and social impairments, developmental delays, and some features of autism spectrum disorders. Carriers of a premutation (55-200 CGG repeats) are generally not severely affected early in life; however, are at high risk of developing...

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Source

Identifiers

PMID: 25920745
DOI: 10.1002/ajmg.a.37125

Genes

FMR1

Provenance

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Related research

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High functioning male with fragile X syndrome and fragile X-associated tremor/ataxia syndrome.PMID 25920745Read ↗

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Fragile X syndrome and fragile X-associated disordersSemantic proximity Read ↗

Fragile X premutation and associated health conditions: A review.Semantic proximity Read ↗

Elevated FMR1-mRNA and lowered FMRP - A double-hit mechanism for psychiatric features in men with FMR1 premutations.Semantic proximity Read ↗

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Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: A case report.Semantic proximity Read ↗

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