Long-read Nanopore sequencing identified D4Z4 contractions in patients with facioscapulohumeral muscular dystrophy

Patra Yeetong, Pimchanok Kulsirichawaroj,Theerawat Kumutpongpanich,Chalurmpon Srichomthong, Phichittra Od-ek, Supphakorn Rakwongkhachon,Titaporn Thamcharoenvipas,Oranee Sanmaneechai,Monnat Pongpanich,Vorasuk Shotelersuk

Neuromuscular Disorders（2023）

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摘要

•Whole genome sequencing using Oxford Nanopore PromethION (ONT) offers a simple and effective molecular diagnosis for FSHD by identifying a contraction of the D4Z4 repeat array.•The diagnosis of FSHD is usually made by clinical characteristics due to rarely available commercial genetic testing.•Individuals with 1–3 D4Z4 repeat units diagnosed at a markedly younger age compared to those with higher numbers of repeats.

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d4z4 contractions,nanopore,long-read

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