+ Site Statistics
+ Search Articles
+ PDF Full Text Service
How our service works
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ Translate
+ Recently Requested

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



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



American Journal of Medical Genetics 84(3): 245-249



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 limited variation in repeat expansion. The repeat was fully methylated in all tissues examined. Therefore, no evidence for extensive mitotic expansion of the CGG repeat during fetal or postnatal life of a fragile X patient was found, in contrast to dynamic mutations caused by CAG/CTG repeat expansion. Extensive pathological examination of this patient and his affected brother revealed no evidence for specific abnormalities relevant to fragile X syndrome; cerebellar hypoplasia, which has been reported in this disorder, was not evident in either patient.

Please choose payment method:






(PDF emailed within 1 workday: $29.90)

Accession: 011174208

Download citation: RISBibTeXText

PMID: 10331601


Related references

Postmortem examination of two fragile X brothers with anFmr1 full mutation. American Journal of Medical Genetics 84(3): 245-249, 1999

Normal phenotype in two brothers with a full FMR1 mutation. Human Molecular Genetics 4(11): 2103-2108, 1995

Mosaicism for FMR1 gene full mutation and deletion in a fragile X female. American Journal of Human Genetics 73(5): 585, 2003

Mosaicism for the fragile X syndrome full mutation and deletions within the CGG repeat of the FMR1 gene. Journal of Medical Genetics 33(4): 338-340, 1996

Strong similarities of the FMR1 mutation in multiple tissues: postmortem studies of a male with a full mutation and a male carrier of a premutation. American Journal of Medical Genetics 84(3): 240-244, 1999

Prenatal Diagnosis of Fragile X: Can a Full Mutation Allele in the FMR1 Gene Contract to a Normal Size?. Frontiers in Genetics 8: 158, 2017

Fragile X-associated tremor/ataxia phenotype in a male carrier of unmethylated full mutation in the FMR1 gene. Clinical Genetics 82(1): 88-92, 2012

A majority of fragile X males with methylated, full mutation alleles have significant levels of FMR1 messenger RNA. Journal of Medical Genetics 38(7): 453-456, 2001

Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. American Journal of Medical Genetics 94(3): 232-236, 2000

Mosaicism for the full mutation and a microdeletion involving the CGG repeat and flanking sequences in the FMR1 gene in eight fragile X patients. American Journal of Medical Genetics 85(3): 311-316, 1999

Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated Fragile X full mutation. Experimental Cell Research 313(2): 244-253, 2007

Mosaicism for a full mutation, premutation, and deletion of the CGG repeats results in 22% FMRP and elevated FMR1 mRNA levels in a high-functioning fragile X male. American Journal of Medical Genetics. Part a 140(13): 1463-1471, 2006

An FMR1 premutation of 47 CGG repeats in two brothers from a fragile X family. American Journal of Human Genetics 55(3 Suppl. ): A215, 1994

Qualitative assessment of FMR1 (CGG)n triplet repeat status in normal, intermediate, premutation, full mutation, and mosaic carriers in both sexes: implications for fragile X syndrome carrier and newborn screening. Genetics in Medicine 12(3): 162-173, 2010

Don't miss patients with atypical FMR1 mutations: dysmorphism and clinical features in a boy with a partially methylated FMR1 full mutation. European Journal of Pediatrics 173(9): 1257-1261, 2014