CLN2 disease resulting from a novel homozygous deep intronic splice variant in TPP1 discovered using long-read sequencing.
Mol Genet Metab
; 140(4): 107713, 2023 Dec.
Article
em En
| MEDLINE
| ID: mdl-37922835
ABSTRACT
Neuronal ceroid lipofuscinosis type 2 (CLN2) is an autosomal recessive neurodegenerative disorder with enzyme replacement therapy available. We present two siblings with a clinical diagnosis of CLN2 disease, but no identifiable TPP1 variants after standard clinical testing. Long-read sequencing identified a homozygous deep intronic variant predicted to affect splicing, confirmed by clinical DNA and RNA sequencing. This case demonstrates how traditional laboratory assays can complement emerging molecular technologies to provide a precise molecular diagnosis.
Palavras-chave
Texto completo:
1
Bases de dados:
MEDLINE
Assunto principal:
Tripeptidil-Peptidase 1
/
Lipofuscinoses Ceroides Neuronais
Limite:
Humans
Idioma:
En
Revista:
Mol Genet Metab
Assunto da revista:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos