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Mroczek, Magdalena; Inashkina, Inna; Stavusis, Janis; Zayakin, Pawel; Khrunin, Andrey; Micule, Ieva; Kenina, Victorija; Zdanovica, Anna; Zídková, Jana; Fajkusová, Lenka; Limborska, Svetlana; Kooi, Anneke J.; Brusse, Esther; Leonardis, Lea; Maver, Ales; Pajusalu, Sander; Õunap, Katrin; Puusepp, Sanna; Dobosz, Paula; Sypniewski, Mateusz; Burnyte, Birute; Lace, Baiba
Human mutation, October 2022, 2022-10-00, 20221001, Volume: 43, Issue: 10Journal Article
The investigated intronic CAPN3 variant NM_000070.3:c.1746‐20C>G occurs in the Central and Eastern Europe with a frequency of >1% and there are conflicting interpretations on its pathogenicity. We collected data on 14 patients carrying the CAPN3 c.1746‐20C>G variant in trans position with another CAPN3 pathogenic/likely pathogenic variant. The patients compound heterozygous for the CAPN3 c.1746‐20C>G variant presented a phenotype consistent with calpainopathy of mild/medium severity. This variant is most frequent in the North/West regions of Russia and may originate from that area. Molecular studies revealed that different splicing isoforms are produced in the muscle. We hypothesize that c.1746‐20C>G is a hypomorphic variant with a reduction of RNA and protein expression and only individuals having a higher ratio of abnormal isoforms are affected. Reclassification of the CAPN3 variant c.1746‐20C>G from variant with a conflicting interpretation of pathogenicity to hypomorphic variant explains many unidentified cases of limb girdle muscular dystrophy R1 calpain 3‐related in Eastern and Central Europe. Variant c.1746‐20C>G is a hypomorphic allele, associated with LGMD R1 calpain3‐related.
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