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 suspect
The full mutation in the FMR–1 gene of male fragile X patients is absent in their sperm
✍ Scribed by Reyniers, Edwin; Vits, Lieve; De Boulle, Kristel; Roy, Bernadette Van; Velzen, Desirée Van; de Graaff, Esther; Verkerk, Annemieke J.M.H.; Jorens, Hugo Z.J.; Darby, John K.; Oostra, Ben
- Book ID
- 109916200
- Publisher
- Nature Publishing Group
- Year
- 1993
- Tongue
- English
- Weight
- 522 KB
- Volume
- 4
- Category
- Article
- ISSN
- 1061-4036
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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
Several mechanisms can explain the occurrence of full-mutation fragile X males with an I& level above -2 SD below mean, also called "high-functioning fragile X males." Incomplete methylation of the CpG island at the 5' end of the FMRl gene is one of these mechanisms. The present study describes the