Research Centre for Medical Genetics
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A new rare molecular genetic mechanism leading to the development of Pompe disease has been discovered

Pompe disease is a rare autosomal recessive lysosomal storage disorder caused by mutations in the GAA gene. An in-depth molecular genetic analysis performed by the authors allowed us to identify a rare type of pathogenic variants in a patient with infantile onset Pompe disease, which is an insertion of a complex mobile genetic element (consisting of SVA and L1 class transposons) into intron 15 of the GAA gene. Subsequent functional analysis revealed a molecular genetic mechanism of pathogenesis leading to disruption of GAA gene expression and consisting in premature termination of gene transcription by a sequence located in the transposon body

This paper draws the attention of researchers to the need to implement modern algorithms to search for traces of mobile genetic elements insertions in the standard bioinformatic protocol of NGS data analysis.

Bychkov, I.; Baydakova, G.; Filatova, A.; Migiaev, O.; Marakhonov, A.; Pechatnikova, N.; Pomerantseva, E.; Konovalov, F.; Ampleeva, M.; Kaimonov, V.; Skoblov, M.; Zakharova, E. Complex Transposon Insertion as a Novel Cause of Pompe Disease. Int. J. Mol. Sci. 2021, 22, 10887.