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Article

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

American journal of medical genetics. Part A - 1 Dec 2016

Hwang Yun Tae, Aliaga Solange Mabel, Arpone Marta, Francis David, Li Xin, Chong Belinda, Slater Howard Robert, Rogers Carolyn, Bretherton Lesley, Hunter Matthew, Heard Robert, Godler David Eugeny

Abstract excerpt

CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 27696642
DOI: 10.1002/ajmg.a.37954

Genes

FMR1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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