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Deletion in the FMR1 gene in a fragile-X male

✍ Scribed by Mannermaa, Arto; Pulkkinen, Leena; Kajanoja, Eliisa; Ryynänen, Markku; Saarikoski, Seppo

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 298 KB
Volume: 64
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19960809)64:2<293::aid-ajmg12>3.0.co;2-a

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✦ Synopsis

The pathogenesis of Fragile-X syndrome is a consequence of absence of the FMRl gene product associated with expansion of the CGG repeat and abnormal methylation of this and a CpG island 250 bp proximal to the CGG repeat located at exon 1 in the FMRl gene. While this is usually the case, some suspected Fragile-X syndrome patients have been described with a mutation other than CGG expansion. W e describe here an affected Fragile-X male, who was found to be mosaic of a full mutation of the CGG expansion and a deletion in the FMRl gene. The patient's phenotype is probably mainly due to the effect of the full mutation of the repeat sequence. Thus, the influence of the deletion is difficult to evaluate.

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