Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers

Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers

Introduction: Fragile X syndrome (FXS) is a common form of X-linked intellectual and developmental disability with a prevalence of 1/4000–5000 in males and 1/6000–8000 in females. Most cases of the syndrome result from expansion of a premutation (55–200 CGGs) to a full mutation (>200 CGGs) re...

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Bibliographic Details
Main Authors: Noam Domniz, Liat Ries-Levavi, Yoram Cohen, Lilach Marom-Haham, Michal Berkenstadt, Elon Pras, Anne Glicksman, Nicole Tortora, Gary J. Latham, Andrew G. Hadd, Sarah L. Nolin, Shai E. Elizur
Format: Article
Language:English
Published: Frontiers Media S.A. 2018-12-01
Series:Frontiers in Genetics
Subjects:
FMR1 premutation
carrier screening
AGG interruptions
genetic counseling
risk assessment
full mutation expansion
Online Access:https://www.frontiersin.org/article/10.3389/fgene.2018.00606/full

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https://www.frontiersin.org/article/10.3389/fgene.2018.00606/full

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