Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan
Abstract Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in...
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2021
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oai:doaj.org-article:155589ae842344c1bf48522b1d15cb792021-12-02T14:26:48ZPrenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan10.1038/s41598-021-81015-y2045-2322https://doaj.org/article/155589ae842344c1bf48522b1d15cb792021-02-01T00:00:00Zhttps://doi.org/10.1038/s41598-021-81015-yhttps://doaj.org/toc/2045-2322Abstract Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnose more than 400 patients, of which, 13 families (16 cases) had requested prenatal diagnoses. Eight cases diagnosed with wild type homozygous or heterozygous variants same as either of the heterozygous parents continued the pregnancy and delivered healthy babies. Another eight cases were diagnosed with homozygous, compound heterozygous, or hemizygous variants same as the proband. Of these, seven families chose to terminate the pregnancy, while one decided to continue the pregnancy. Neonatal- or infantile-onset mitochondrial diseases show severe phenotypes and lead to lethality. Therefore, such diseases could be candidates for prenatal diagnosis with careful genetic counseling, and prenatal testing could be a viable option for families.Nana AkiyamaMasaru ShimuraTaro YamazakiHiroko HarashimaTakuya FushimiTomoko TsuruokaTomohiro EbiharaKeiko IchimotoAyako MatsunagaMegumi Saito-TsuruokaYukiko YatsukaYoshihito KishitaMasakazu KohdaAkira NambaYoshimasa KameiYasushi OkazakiShinji KosugiAkira OhtakeKei MurayamaNature PortfolioarticleMedicineRScienceQENScientific Reports, Vol 11, Iss 1, Pp 1-7 (2021) |
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Medicine R Science Q Nana Akiyama Masaru Shimura Taro Yamazaki Hiroko Harashima Takuya Fushimi Tomoko Tsuruoka Tomohiro Ebihara Keiko Ichimoto Ayako Matsunaga Megumi Saito-Tsuruoka Yukiko Yatsuka Yoshihito Kishita Masakazu Kohda Akira Namba Yoshimasa Kamei Yasushi Okazaki Shinji Kosugi Akira Ohtake Kei Murayama Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan |
| description |
Abstract Prenatal diagnoses of mitochondrial diseases caused by defects in nuclear DNA (nDNA) or mitochondrial DNA have been reported in several countries except for Japan. The present study aimed to clarify the status of prenatal genetic diagnosis of mitochondrial diseases caused by nDNA defects in Japan. A comprehensive genomic analysis was performed to diagnose more than 400 patients, of which, 13 families (16 cases) had requested prenatal diagnoses. Eight cases diagnosed with wild type homozygous or heterozygous variants same as either of the heterozygous parents continued the pregnancy and delivered healthy babies. Another eight cases were diagnosed with homozygous, compound heterozygous, or hemizygous variants same as the proband. Of these, seven families chose to terminate the pregnancy, while one decided to continue the pregnancy. Neonatal- or infantile-onset mitochondrial diseases show severe phenotypes and lead to lethality. Therefore, such diseases could be candidates for prenatal diagnosis with careful genetic counseling, and prenatal testing could be a viable option for families. |
| format |
article |
| author |
Nana Akiyama Masaru Shimura Taro Yamazaki Hiroko Harashima Takuya Fushimi Tomoko Tsuruoka Tomohiro Ebihara Keiko Ichimoto Ayako Matsunaga Megumi Saito-Tsuruoka Yukiko Yatsuka Yoshihito Kishita Masakazu Kohda Akira Namba Yoshimasa Kamei Yasushi Okazaki Shinji Kosugi Akira Ohtake Kei Murayama |
| author_facet |
Nana Akiyama Masaru Shimura Taro Yamazaki Hiroko Harashima Takuya Fushimi Tomoko Tsuruoka Tomohiro Ebihara Keiko Ichimoto Ayako Matsunaga Megumi Saito-Tsuruoka Yukiko Yatsuka Yoshihito Kishita Masakazu Kohda Akira Namba Yoshimasa Kamei Yasushi Okazaki Shinji Kosugi Akira Ohtake Kei Murayama |
| author_sort |
Nana Akiyama |
| title |
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan |
| title_short |
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan |
| title_full |
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan |
| title_fullStr |
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan |
| title_full_unstemmed |
Prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in Japan |
| title_sort |
prenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in japan |
| publisher |
Nature Portfolio |
| publishDate |
2021 |
| url |
https://doaj.org/article/155589ae842344c1bf48522b1d15cb79 |
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