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Article

Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.

European journal of medical genetics - 1 Aug 2021

Erbs Emilie, Fenger-Grøn Jesper, Jacobsen Cecilie Mondrup, Lildballe Dorte Launholt, Rasmussen Maria

Abstract excerpt

Fragile X syndrome (FXS) is caused by CGG-repeat expansion in the 5' UTR of FMR1 of >200 repeats. Rarely, FXS is caused by deletions; however, it is not clear whether deletions including only the non-coding region of FMR1 are pathogenic. We report a deletion in the 5' UTR of FMR1 in an unaffected male infant and review 12 reported deletions involving only the non-coding region of FMR1. Genetic testing was...

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Identifiers

PMID: 34022415
DOI: 10.1016/j.ejmg.2021.104244

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Spontaneous rescue of a FMR1 repeat expansion and review of deletions in the FMR1 non-coding region.PMID 34022415Read ↗

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