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Article

Fragile X syndrome full mutation in cognitively normal male identified as part of an Australian reproductive carrier screening program.

American journal of medical genetics. Part A - 1 May 2021

Jarmolowicz Anna I, Baker Emma K, Bartlett Essra, Francis David, Ling Ling, Gamage Dinusha, Delatycki Martin B, Godler David E

Abstract excerpt

Fragile X syndrome (FXS) is caused by CGG expansions of ≥200 repeats (full mutation: FM). Typically, FM causes abnormal methylation of the FMR1 promoter and silencing of FMR1, leading to reduction of FMRP, a protein essential for normal neurodevelopment. However, if unmethylated, these alleles cause over-expression of FMR1 mRNA which has been associated with Fragile X Tremor and Ataxia Syndrome (FXTAS), a late...

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PMID: 33544979
DOI: 10.1002/ajmg.a.62106

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