Postmortem examination of two fragile X brothers with an FMR1 full mutation.

doi:10.1002/(sici)1096-8628(19990528)84:3<245::aid-ajmg16>3.0.co;2-u

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Article

Postmortem examination of two fragile X brothers with an FMR1 full mutation.

American journal of medical genetics - 28 May 1999

Reyniers E, Martin J J, Cras P, Van Marck E, Handig I, Jorens H Z, Oostra B A, Kooy R F, Willems P J

Abstract excerpt

Large expansions of the CGG repeat in the 5' untranslated region of the FMR1 gene are found in patients with the fragile X syndrome. Amplified CGG repeats in FMR1 are unstable and show intergenerational increase from mother to offspring. The exact timing of repeat amplification, however, is unknown. We have compared the extent of CGG expansion in various tissues of this deceased fragile X patient, and found only...

Topics

Adult
Aged
Brain
DNA
Fragile X Mental Retardation Protein
Fragile X Syndrome
Humans
Mosaicism
Mutation
Nerve Tissue Proteins
RNA-Binding Proteins

Source

Open in PubMed

Identifiers

PMID: 10331601
DOI: 10.1002/(sici)1096-8628(19990528)84:3<245::aid-ajmg16>3.0.co;2-u

Genes

FMR1

Provenance

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