Complex Transposon Insertion as a Novel Cause of Pompe Disease

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 r...

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Bibliographic Details
Published in:International journal of molecular sciences 2021-10, Vol.22 (19), p.10887
Main Authors: Bychkov, Igor, Baydakova, Galina, Filatova, Alexandra, Migiaev, Ochir, Marakhonov, Andrey, Pechatnikova, Nataliya, Pomerantseva, Ekaterina, Konovalov, Fedor, Ampleeva, Maria, Kaimonov, Vladimir, Skoblov, Mikhail, Zakharova, Ekaterina
Format: Article
Language:English
Subjects:
Cardiomyopathy
Disease
Enzymes
Functional analysis
Genes
Genetic analysis
Genomes
Hereditary diseases
Insertion
Kinases
Mutation
Whole genome sequencing
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Description
Summary: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.
ISSN:1422-0067
1661-6596
1422-0067
DOI:10.3390/ijms221910887