Complex Transposon Insertion as a Novel Cause of Pompe Disease |
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| Authors: | Igor Bychkov Galina Baydakova Alexandra Filatova Ochir Migiaev Andrey Marakhonov Nataliya Pechatnikova Ekaterina Pomerantseva Fedor Konovalov Maria Ampleeva Vladimir Kaimonov Mikhail Skoblov Ekaterina Zakharova |
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| Affiliation: | 1.Research Centre for Medical Genetics, 115478 Moscow, Russia; (G.B.); (A.F.); (O.M.); (A.M.); (M.S.); (E.Z.);2.Morozov Children’s City Clinical Hospital, 119049 Moscow, Russia;3.Center of Genetics and Reproductive Medicine GENETICO, JSC, 119333 Moscow, Russia; (E.P.); (V.K.);4.Independent Clinical Bioinformatics Laboratory, 123181 Moscow, Russia; (F.K.); (M.A.) |
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| Abstract: | 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. |
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