AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome | Zendy

Carolyn M. Yrigollen | Zendy; Blythe DurbinJohnson | Zendy; Louise W. Gane | Zendy; David L. Nelson | Zendy; Randi Hagerman | Zendy; Paul J. Hagerman | Zendy; Flora Tassone | Zendy

AI Assistant Blog Pricing

Home ZAIA Blog

Open Access

AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome

Author(s) -

Carolyn M. Yrigollen,

Blythe DurbinJohnson,

Louise W. Gane,

David L. Nelson,

Randi Hagerman,

Paul J. Hagerman,

Flora Tassone

Publication year - 2012

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2012.34

Subject(s) - fmr1 , fragile x syndrome , allele , genetics , haplotype , offspring , locus (genetics) , biology , trinucleotide repeat expansion , microsatellite , gene , pregnancy

The ability to accurately predict the likelihood of expansion of the CGG repeats in the FMR1 gene to a full mutation is of critical importance for genetic counseling of women who are carriers of premutation alleles (55-200 CGG repeats) and who are weighing the risk of having a child with fragile X syndrome. The presence of AGG interruptions within the CGG repeat tract is thought to decrease the likelihood of expansion to a full mutation during transmission, thereby reducing risk, although their contribution has not been quantified.

The content you want is available to Zendy users.

Already have an account? Click here to sign in.

Having issues? You can contact us here

Accelerating Research