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 language | English |
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Article number | 99 |
Number of pages | 8 |
Journal | Medicina (Lithuania) |
Volume | 60 |
Issue number | 1 |
DOIs | |
Publication status | Published - Jan 2024 |
Externally published | Yes |
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