Identification of an intronic Alu insertion in the SYNE1 gene associated with autosomal recessive spinocerebellar ataxia type 8

Genet Med Open. 2024 Sep 10:2:101893. doi: 10.1016/j.gimo.2024.101893. eCollection 2024.

Maryse Gagnon^{1

2}, Nadia Bouhamdani^{1

3

4

5}, Dimiter P Kolev⁶, S Hussain Askree⁶, Mouna Ben Amor^{1

2

3}

¹ Université de Sherbrooke, Sherbrooke, QC, Canada.
² Centre de formation médicale du Nouveau-Brunswick, Moncton, NB, Canada.
³ Vitalité Health Network, Moncton, NB, Canada.
⁴ Université de Moncton, Department of Chemistry and Biochemistry, Moncton, NB, Canada.
⁵ Atlantic Cancer Research Institute, Moncton, NB, Canada.
⁶ MNG Laboratories (Medical Neurogenetics, LLC.), a Labcorp subsidiary, Atlanta, GA.

No abstract available

Keywords: Alu elements; Nesprin; SCAR8; SYNE1; retrotransposons.