Stavusis, JanisMičule, IevaGrīnfelde, IevaZdanovica, AnnaPudulis, JanisValeina, SandraSepetiene, SvetlanaLace, BaibaInashkina, Inna2025-01-282025-01-282024-01Stavusis, J, Mičule, I, Grīnfelde, I, Zdanovica, A, Pudulis, J, Valeina, S, Sepetiene, S, Lace, B & Inashkina, I 2024, 'Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease', Medicina (Lithuania), vol. 60, no. 1, 99. https://doi.org/10.3390/medicina600100991010-660Xhttps://dspace.rsu.lv/jspui/handle/123456789/17048Publisher Copyright: © 2024 by the authors.Background and Objectives: Danon disease is a multisystemic disorder associated with variants in the LAMP2 gene, mainly affecting the cardiac muscle. Here, we report a multigenerational family from Latvia with two male patients, hemizygous for a novel splice-affecting variant c.928+3A>G. Affected patients exhibit a cardiac phenotype, moderate mental disability, and mild retinal changes. Materials and Methods: Both patients underwent either exome or hypertrophic cardiomyopathy gene panel next-generation sequencing. The pathogenic variant effect was determined using reverse transcription, Sanger sequencing, and high-resolution electrophoresis. Results: Evaluation of the splicing process revealed that approximately 80% of the transcripts exhibited a lack of the entire exon 7. This alteration was predicted to cause a shift of the reading frame, consequently introducing a premature stop codon downstream in the sequence. Conclusions: Based on our data, we propose that c.928+3A>G is a pathogenic variant associated with Danon disease.8713727enginfo:eu-repo/semantics/openAccessaltered splicingDanon diseaseLAMP23.2 Clinical medicine1.1. Scientific article indexed in Web of Science and/or Scopus databaseGeneral Medicine/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article10.3390/medicina60010099http://www.scopus.com/inward/record.url?scp=85183181729&partnerID=8YFLogxK