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Complex Transposon Insertion as a Novel Cause of Pompe Disease.

Igor O BychkovGalina BaydakovaAlexandra Yu FilatovaOchir MigiaevAndrey A MarakhonovNataliya PechatnikovaEkaterina PomerantsevaFedor A KonovalovMaria AmpleevaVladimir KaimonovMikhail Yurevich SkoblovEkaterina Zakharova
Published in: International journal of molecular sciences (2021)
Pompe disease (OMIM#232300) is an autosomal recessive lysosomal storage disorder caused by mutations in the GAA gene. According to public mutation databases, more than 679 pathogenic variants have been described in GAA, none of which are associated with mobile genetic elements. In this article, we report a novel molecular genetic cause of Pompe disease, which could be hardly detected using routine molecular genetic analysis. Whole genome sequencing followed by comprehensive functional analysis allowed us to discover and characterize a complex mobile genetic element insertion deep in the intron 15 of the GAA gene in a patient with infantile onset Pompe disease.
Keyphrases
  • late onset
  • copy number
  • genome wide
  • replacement therapy
  • healthcare
  • emergency department
  • gene expression
  • early onset
  • smoking cessation
  • clinical practice
  • autism spectrum disorder