A common flanking variant is associated with enhanced meiotic stability of the FGF14-SCA27B locus
David PelleriniD, Giulia F. Del GobboiD, Madeline CouseiD, Egor DolzhenkoiD, Sathiji NageshwaraniD, Warren CheungiD, Isaac R. L. XuiD, Marie‐Josée DicaireiD, Guinevere Spurdens, Gabriel E. Matos-RodriguesiD, Igor StevanovskiiD, Carolin K. ScribaiD, Adriana P. RebeloiD, Virginie Roth, Marion Wandzel, Céline BonnetiD, Catherine AshtoniD, Aman AgarwaliD, Cyril Jayakumar PeteriD, Dan HassoniD, Nadejda M. TsankovaiD, Ken DewariD, Phillipa J. LamontiD, Nigel G. LaingiD, Mathilde RenaudiD, , Alba Sanchis‐JuaniD
Abstract
The factors driving initiation of pathological expansion of tandem repeats remain largely unknown. Here, we assessed the FGF14-SCA27B (GAA)*(TTC) repeat locus in 2,530 individuals by long-read and Sanger sequencing and identified a 5-flanking 17-bp deletion-insertion in 70.34% of alleles (3,463/4,923). This common sequence variation was present nearly exclusively on alleles with fewer than 30 GAA-pure repeats and was associated with enhanced meiotic stability of the repeat locus.
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