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Article

Accurate prenatal diagnosis of facioscapulohumeral muscular dystrophy 1 using nanopore sequencing.

Journal of medical genetics - 25 Nov 2024

Wang Yanan, Zhao Zhenhua, Meng Fei, Kong Xiangdong

Abstract excerpt

BACKGROUND: Facioscapulohumeral muscular dystrophy 1 (FSHD1) is an autosomal dominant muscular disorder mainly caused by the contraction and hypomethylation of the D4Z4 repeat array in chromosome 4q35. Prenatal diagnosis of FSHD1 is challenging due to the highly repetitive and long genomic structure. In this study, a pregnant woman diagnosed with FSHD1 using optical genome mapping sought assistance for a healthy...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39461849
DOI: 10.1136/jmg-2023-109832

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