Altered Splicing of LAMP2 in a Multigenerational Family from Latvia Affected by Danon Disease.
Medicina (Kaunas)
; 60(1)2024 Jan 05.
Article
em En
| MEDLINE
| ID: mdl-38256360
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 andMethods:
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Depósito de Glicogênio Tipo IIb
Tipo de estudo:
Prognostic_studies
Limite:
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Medicina (Kaunas)
/
Medicina (Kaunas. Online)
Assunto da revista:
MEDICINA
Ano de publicação:
2024
Tipo de documento:
Article
País de afiliação:
Letônia
País de publicação:
Suíça