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Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.
- Source :
- Medicina (1010660X); Jan2024, Vol. 60 Issue 1, p99, 8p
- Publication Year :
- 2024
-
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. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 1010660X
- Volume :
- 60
- Issue :
- 1
- Database :
- Complementary Index
- Journal :
- Medicina (1010660X)
- Publication Type :
- Academic Journal
- Accession number :
- 175076449
- Full Text :
- https://doi.org/10.3390/medicina60010099