Factors associated with ATXN2 CAG/CAA repeat intergenerational instability in Spinocerebellar ataxia type 2

Clinical Genetics
L E Almaguer-MederosLuis Velazquez-Perez

Abstract

Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disorder caused by the unstable expansion of a cytosine-adenine-guanine (CAG)/cytosine-adenine-adenine (CAA) repeat in the ATXN2 gene, which normally encodes 22 glutamines (Q22). A large study was conducted to characterize the CAG/CAA repeat intergenerational instability in SCA2 families. Large normal alleles (Q24-31) were significantly more unstable upon maternal transmissions. In contrast, expanded alleles (Q32-750) were significantly more unstable during paternal transmissions, in correlation with repeat length. Significant correlations were found between the instability and the age at conception in paternal transmissions. In conclusion, intergenerational instability at ATXN2 locus is influenced by the sex, repeat length and age at conception of the transmitting parent. These results have profound implications for genetic counseling services.

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Citations

Nov 27, 2019·International Journal of Molecular Sciences·Nesli-Ece SenGeorg Auburger
Aug 23, 2019·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Polina A Egorova, Ilya B Bezprozvanny
Feb 16, 2020·The Journal of Biological Chemistry·Alexandra N Khristich, Sergei M Mirkin
Jan 26, 2020·The Cerebellum·Luis Velázquez-PérezUNKNOWN Cuban Hereditary Ataxias Network
Sep 17, 2018·The Cerebellum·Lucas Schenatto SenaLaura Bannach Jardim
Feb 7, 2021·Movement Disorders : Official Journal of the Movement Disorder Society·Luis E Almaguer-MederosGeorg Auburger
Jan 29, 2021·The Journal of Biological Chemistry·Alexandra N Khristich, Sergei M Mirkin
May 8, 2021·Clinical Genetics·Lucas Schenatto SenaLaura Bannach Jardim
May 27, 2021·Acta Neuropathologica Communications·Sanjog R ChintalaphaniKishore R Kumar

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