Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease

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dc.contributor.authorStavusis, Janis
dc.contributor.authorMičule, Ieva
dc.contributor.authorGrīnfelde, Ieva
dc.contributor.authorZdanovica, Anna
dc.contributor.authorPudulis, Janis
dc.contributor.authorValeina, Sandra
dc.contributor.authorSepetiene, Svetlana
dc.contributor.authorLace, Baiba
dc.contributor.authorInashkina, Inna
dc.date.accessioned2025-01-28T11:10:01Z
dc.date.available2025-01-28T11:10:01Z
dc.date.issued2024-01
dc.descriptionPublisher Copyright: © 2024 by the authors.
dc.description.abstractBackground 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.en
dc.description.statusPeer reviewed
dc.format.extent8
dc.format.extent713727
dc.identifier.citationStavusis, 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/medicina60010099
dc.identifier.doi10.3390/medicina60010099
dc.identifier.issn1010-660X
dc.identifier.urihttps://dspace.rsu.lv/jspui/handle/123456789/17048
dc.identifier.urlhttp://www.scopus.com/inward/record.url?scp=85183181729&partnerID=8YFLogxK
dc.language.isoeng
dc.relation.ispartofMedicina (Lithuania)
dc.rightsinfo:eu-repo/semantics/openAccess
dc.subjectaltered splicing
dc.subjectDanon disease
dc.subjectLAMP2
dc.subject3.2 Clinical medicine
dc.subject1.1. Scientific article indexed in Web of Science and/or Scopus database
dc.subjectGeneral Medicine
dc.titleAltered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Diseaseen
dc.type/dk/atira/pure/researchoutput/researchoutputtypes/contributiontojournal/article

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