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

Janis Stavusis (Corresponding Author), Ieva Mičule, Ieva Grīnfelde, Anna Zdanovica, Janis Pudulis, Sandra Valeina, Svetlana Sepetiene, Baiba Lace, Inna Inashkina

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Article number99
Number of pages8
JournalMedicina (Lithuania)
Volume60
Issue number1
DOIs
Publication statusPublished - Jan 2024
Externally publishedYes

Keywords*

  • altered splicing
  • Danon disease
  • LAMP2

Field of Science*

  • 3.2 Clinical medicine

Publication Type*

  • 1.1. Scientific article indexed in Web of Science and/or Scopus database

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