RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-11-23

AUTHORS

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

ABSTRACT

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) cases unresolved by ES were analyzed with RNA-seq. Variants related to detected aberrant splicing events were analyzed with Sanger sequencing. Detected variants were screened in NM patients unresolved by ES. RESULTS: We identified a novel deep-intronic NEB pathogenic variant, c.1569+339A>G in one case, and another novel synonymous NEB pathogenic variant, c.24684G>C (p.Ser8228Ser) in three cases. The c.24684G>C variant was observed to be the most frequent among all NEB pathogenic variants in normal Japanese populations with a frequency of 1 in 178 (20 alleles in 3552 individuals), but was previously unrecognized. Expanded screening of the variant identified it in a further four previously unsolved nemaline myopathy cases. CONCLUSION: These results indicated that RNA-seq may be able to solve a large proportion of previously undiagnosed muscle diseases. More... »

PAGES

1-10

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    URI

    http://scigraph.springernature.com/pub.10.1038/s41436-018-0360-6

    DOI

    http://dx.doi.org/10.1038/s41436-018-0360-6

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1110124031

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30467404


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