A case of an Angelman-syndrome caused by an intragenic duplication of UBE3A uncovered by adaptive nanopore sequencing.
Clin Epigenetics
; 16(1): 101, 2024 Aug 02.
Article
em En
| MEDLINE
| ID: mdl-39095842
ABSTRACT
Adaptive nanopore sequencing as a diagnostic method for imprinting disorders and episignature analysis revealed an intragenic duplication of Exon 6 and 7 in UBE3A (NM_000462.5) in a patient with relatively mild Angelman-like syndrome. In an all-in-one nanopore sequencing analysis DNA hypomethylation of the SNURFTSS-DMR, known contributing deletions on the maternal allele and point mutations in UBE3A could be ruled out as disease drivers. In contrast, breakpoints and orientation of the tandem duplication could clearly be defined. Segregation analysis in the family showed that the duplication derived de novo in the maternal grandfather. Our study shows the benefits of an all-in-one nanopore sequencing approach for the diagnostics of Angelman syndrome and other imprinting disorders.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Angelman
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Metilação de DNA
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Duplicação Gênica
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Ubiquitina-Proteína Ligases
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Sequenciamento por Nanoporos
Limite:
Female
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Humans
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Male
Idioma:
En
Revista:
Clin Epigenetics
Ano de publicação:
2024
Tipo de documento:
Article