Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.
Ann Clin Transl Neurol
; 9(8): 1302-1309, 2022 08.
Article
em En
| MEDLINE
| ID: mdl-35734998
ABSTRACT
Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites. We enrolled 10 unrelated families nine had muscular dystrophy but lacked complete genetic diagnoses and one had an asymptomatic DMD duplication. Nanopore genomic long-read sequencing identified previously undetected pathogenic variants in four individuals an SV in DMD, an SV in LAMA2, and two single nucleotide variants in DMD that alter splicing. The DMD duplication in the asymptomatic individual was in tandem. Nanopore sequencing may help streamline genetic diagnostic approaches for muscular dystrophy.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular de Duchenne
/
Nanoporos
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Sequenciamento por Nanoporos
Idioma:
En
Ano de publicação:
2022
Tipo de documento:
Article