P310 Direct measure of D4Z4 repetition in FSHD1 patients by applying comprehensive BLAST using nanopore sequencing

Facioscapulohumeral muscular dystrophy (FSHD) is one of the common myopathies in adults. Shortness of D4Z4 below ten repeats in the 4qA allele is known to be pathogenic in FSHD type 1. However, the current genetic diagnosis, southern blot, is a laborious task requiring seven consecutive days. Here, we introduce a new diagnostic technique using long-read sequencing to measure D4Z4 repeats directly without any further manipulation. We enrolled four patients with FSHD1 confirmed by a Southern blot.

Source: Neuromuscular Disorders - October 1, 2023 Category: Neurology Authors: J. Lee, H. Lee, S. Jeon, J. Bhak, J. Shin, I. Nishino Source Type: research