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Rapid genotyping of inversion variants in Mucopolysaccharidosis type II using long-range PCR: A case report.
Hattori, Yusuke; Kido, Jun; Sugawara, Keishin; Sawada, Takaaki; Matsumoto, Shirou; Nakamura, Kimitoshi.
Afiliación
  • Hattori Y; Department of Pediatrics, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Kido J; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
  • Sugawara K; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan.
  • Sawada T; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
  • Matsumoto S; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
  • Nakamura K; Department of Pediatrics, Faculty of Life Sciences, Kumamoto University, Kumamoto, Japan.
Mol Genet Metab Rep ; 41: 101139, 2024 Dec.
Article en En | MEDLINE | ID: mdl-39282050
ABSTRACT
Mucopolysaccharidosis II (MPS II) is a lysosomal storage disease caused by a deficiency in iduronate-2-sulfatase (IDS), leading to the accumulation of dermatan sulfate and heparan sulfate in lysosomes. Traditionally, genotyping of the IDS gene has been conducted through exome sequencing, which fails to detect inversion variants. Consequently, when no pathogenic variants are detected in exons, additional PCR-based analysis is required. Herein, we introduce a rapid genotyping technique method using long-range PCR for MPS II patients. We successfully identified an inversion variant and confirmed the sequences of the inversion regions. We also confirmed that the pathogenic variant in the patient originated de novo. These findings suggest that long-range PCR genotyping can identify inversion variants more rapidly compared to the previous PCR-based methods, making it a valuable tool for newborn screening (NBS) and genetic diagnosis.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Mol Genet Metab Rep Año: 2024 Tipo del documento: Article País de afiliación: Japón Pais de publicación: Estados Unidos