Article
De Novo Truncating Variants in the Last Exon of SEMA6B Cause Progressive Myoclonic Epilepsy.
American journal of human genetics - 2 Apr 2020
Hamanaka Kohei, Imagawa Eri, Koshimizu Eriko, Miyatake Satoko, Tohyama Jun, Yamagata Takanori, Miyauchi Akihiko, Ekhilevitch Nina, Nakamura Fumio, Kawashima Takeshi, Goshima Yoshio, Mohamed Ahmad Rithauddin, Ch'ng Gaik-Siew, Fujita Atsushi, Azuma Yoshiteru, Yasuda Ken, Imamura Shintaro, Nakashima Mitsuko, Saitsu Hirotomo, Mitsuhashi Satomi, Mizuguchi Takeshi, Takata Atsushi, Miyake Noriko, Matsumoto Naomichi
Abstract excerpt
De novo variants (DNVs) cause many genetic diseases. When DNVs are examined in the whole coding regions of genes in next-generation sequencing analyses, pathogenic DNVs often cluster in a specific region. One such region is the last exon and the last 50 bp of the penultimate exon, where truncating DNVs cause escape from nonsense-mediated mRNA decay [NMD(-) region]. Such variants can have dominant-negative or...
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