{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T04:55:16Z","timestamp":1787028916064,"version":"build-2736575974"},"reference-count":25,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T00:00:00Z","timestamp":1704412800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100008530","name":"European Regional Development Fund","doi-asserted-by":"publisher","award":["1.1.1.1\/18\/A\/096"],"award-info":[{"award-number":["1.1.1.1\/18\/A\/096"]}],"id":[{"id":"10.13039\/501100008530","id-type":"DOI","asserted-by":"publisher"}]},{"name":"intramural funds of the Latvian Biomedical Research and Study Centre","award":["1.1.1.1\/18\/A\/096"],"award-info":[{"award-number":["1.1.1.1\/18\/A\/096"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Medicina"],"abstract":"<jats:p>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&gt;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&gt;G is a pathogenic variant associated with Danon disease.<\/jats:p>","DOI":"10.3390\/medicina60010099","type":"journal-article","created":{"date-parts":[[2024,1,5]],"date-time":"2024-01-05T05:12:17Z","timestamp":1704431537000},"page":"99","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease"],"prefix":"10.3390","volume":"60","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-0109-3312","authenticated-orcid":false,"given":"Janis","family":"Stavusis","sequence":"first","affiliation":[{"name":"Latvian Biomedical Research and Study Centre, Ratsupites 1, LV-1067 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2863-733X","authenticated-orcid":false,"given":"Ieva","family":"Micule","sequence":"additional","affiliation":[{"name":"Latvian Biomedical Research and Study Centre, Ratsupites 1, LV-1067 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ieva","family":"Grinfelde","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Prenatal Diagnostics, Children\u2019s University Hospital, Vienibas Gatve 45, LV-1004 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Zdanovica","sequence":"additional","affiliation":[{"name":"Latvian Biomedical Research and Study Centre, Ratsupites 1, LV-1067 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janis","family":"Pudulis","sequence":"additional","affiliation":[{"name":"Department of Arrhythmology, Riga East University Hospital, Hipokrata 2, LV-1079 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Valeina","sequence":"additional","affiliation":[{"name":"Ophthalmology Clinics, Children\u2019s University Hospital, Vienibas Gatve 45, LV-1004 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana","family":"Sepetiene","sequence":"additional","affiliation":[{"name":"Ophthalmology Clinics, Children\u2019s University Hospital, Vienibas Gatve 45, LV-1004 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Baiba","family":"Lace","sequence":"additional","affiliation":[{"name":"Latvian Biomedical Research and Study Centre, Ratsupites 1, LV-1067 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Inna","family":"Inashkina","sequence":"additional","affiliation":[{"name":"Latvian Biomedical Research and Study Centre, Ratsupites 1, LV-1067 Riga, Latvia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,1,5]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1212\/WNL.31.1.51","article-title":"Lysosomal glycogen storage disease with normal acid maltase","volume":"31","author":"Danon","year":"1981","journal-title":"Neurology"},{"key":"ref_2","unstructured":"Roseline, F., and Ir\u00e8ne, M. 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