Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Incomplete silencing of full mutation alleles in males with fragile X syndrome is associated with autistic features

Abstract Background Fragile X syndrome (FXS) is a common monogenic cause of intellectual disability with autism features. While it is caused by loss of the FMR1 product (FMRP), mosaicism for active and inactive FMR1 alleles, including alleles termed premutation (PM: 55–199 CGGs), is not uncommon. Im...

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Bibliographic Details
Main Authors: Emma K. Baker, Marta Arpone, Solange M. Aliaga, Lesley Bretherton, Claudine M. Kraan, Minh Bui, Howard R. Slater, Ling Ling, David Francis, Matthew F. Hunter, Justine Elliott, Carolyn Rogers, Michael Field, Jonathan Cohen, Kim Cornish, Lorena Santa Maria, Victor Faundes, Bianca Curotto, Paulina Morales, Cesar Trigo, Isabel Salas, Angelica M. Alliende, David J. Amor, David E. Godler
Format: Article
Language:English
Published: BMC 2019-05-01
Series:Molecular Autism
Subjects:
Fragile X syndrome
FMR1 mRNA
Autism
Intellectual disability
Mosaicism
Online Access:http://link.springer.com/article/10.1186/s13229-019-0271-7

Internet

http://link.springer.com/article/10.1186/s13229-019-0271-7

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