Neurodevelopmental effects of the FMR-1 full mutation in humans
โ Scribed by Reiss, Allan L.; Abrams, Michael T.; Greenlaw, Ronald; Freund, Lisa; Denckla, Martha B.
- Book ID
- 109927121
- Publisher
- Nature Publishing Group
- Year
- 1995
- Tongue
- English
- Weight
- 954 KB
- Volume
- 1
- Category
- Article
- ISSN
- 1078-8956
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๐ SIMILAR VOLUMES
Fragile X syndrome is associated with an unstable CGG-repeat in the FMR-1 gene. There are few reports of affected males transmitting the FMR-1 gene to offspring. We report on a family in which the propositus and his twin sister each had a full mutation with abnormal methylation. Their mother had an
The main mutation in fragile X patients is the expansion of the CGG repeat in the first exon of the FMR1 gene, associated with hypermethylation of the proximal CpG island. An increasing number of atypical cases have been reported showing the coexistence of full mutation and premutated or normalsized