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Article

RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2019

Hamanaka Kohei, Miyatake Satoko, Koshimizu Eriko, Tsurusaki Yoshinori, Mitsuhashi Satomi, Iwama Kazuhiro, Alkanaq Ahmed N, Fujita Atsushi, Imagawa Eri, Uchiyama Yuri, Tawara Nozomu, Ando Yukio, Misumi Yohei, Okubo Mariko, Nakashima Mitsuko, Mizuguchi Takeshi, Takata Atsushi, Miyake Noriko, Saitsu Hirotomo, Iida Aritoshi, Nishino Ichizo, Matsumoto Naomichi

Abstract excerpt

PURPOSE: The diagnostic rate for Mendelian diseases by exome sequencing (ES) is typically 20-40%. The low rate is partly because ES misses deep-intronic or synonymous variants leading to aberrant splicing. In this study, we aimed to apply RNA sequencing (RNA-seq) to efficiently detect the aberrant splicings and their related variants. METHODS: Aberrant splicing in biopsied muscles from six nemaline myopathy (NM)...

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PMID: 30467404
DOI: 10.1038/s41436-018-0360-6

Genes

NEB

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