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Article

Paternal retraction of a fragile X allele to normal size, showing normal function over two generations.

American journal of medical genetics. Part A - 1 Jan 2022

Bartlett Essra, Archibald Alison D, Francis David, Ling Ling, Thomas Rob, Chandler Gabrielle, Ward Lisa, O'Farrell Gemma, Pandelache Alison, Delatycki Martin B, Bennetts Bruce H, Ho Gladys, Fisk Katrina, Baker Emma K, Amor David J, Godler David E

Abstract excerpt

The FMR1 premutation (PM:55-199 CGG) is associated with fragile X-associated tremor/ataxia syndrome (FXTAS) and when maternally transmitted is at risk of expansion to a hypermethylated full mutation (FM: ≥ 200 CGG) that causes fragile X syndrome (FXS). We describe a maternally transmitted PM (77 CGG) that was passed to a son (103 CGG), and to a daughter (220-1822 CGG), who were affected with FXTAS and FXS,...

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Share to Alleles
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fragile X Mental Retardation Protein

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Identifiers

PMID: 34545686
DOI: 10.1002/ajmg.a.62500

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