Article
Usefulness of functional splicing analysis to confirm precise disease pathogenesis in Diamond-Blackfan anemia caused by intronic variants in RPS19.
Pediatric hematology and oncology - 1 Sept 2021
Takafuji Satoru, Mori Takeshi, Nishimura Noriyuki, Yamamoto Nobuyuki, Uemura Suguru, Nozu Kandai, Terui Kiminori, Toki Tsutomu, Ito Etsuro, Muramatsu Hideki, Takahashi Yoshiyuki, Matsuo Masafumi, Yamamura Tomohiko, Iijima Kazumoto
Abstract excerpt
Diamond-Blackfan anemia (DBA) is mainly caused by pathogenic variants in ribosomal proteins and 22 responsible genes have been identified to date. The most common causative gene of DBA is RPS19 [NM_001022.4]. Nearly 180 RPS19 variants have been reported, including three deep intronic variants outside the splicing consensus sequence (c.72-92A > G, c.356 + 18G > C, and c.411 + 6G > C). We also identified one case...
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