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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| Language: | English |
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Nature Portfolio
2021-02-01
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| Series: | Scientific Reports |
| Online Access: | https://doi.org/10.1038/s41598-021-81015-y |
| _version_ | 1818424896567377920 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-14T14:05:20Z |
| format | Article |
| id | doaj.art-155589ae842344c1bf48522b1d15cb79 |
| institution | Directory Open Access Journal |
| issn | 2045-2322 |
| language | English |
| last_indexed | 2024-12-14T14:05:20Z |
| publishDate | 2021-02-01 |
| publisher | Nature Portfolio |
| record_format | Article |
| series | Scientific Reports |
| spelling | doaj.art-155589ae842344c1bf48522b1d15cb792022-12-21T22:58:33ZengNature PortfolioScientific Reports2045-23222021-02-011111710.1038/s41598-021-81015-yPrenatal diagnosis of severe mitochondrial diseases caused by nuclear gene defects: a study in JapanNana Akiyama0Masaru Shimura1Taro Yamazaki2Hiroko Harashima3Takuya Fushimi4Tomoko Tsuruoka5Tomohiro Ebihara6Keiko Ichimoto7Ayako Matsunaga8Megumi Saito-Tsuruoka9Yukiko Yatsuka10Yoshihito Kishita11Masakazu Kohda12Akira Namba13Yoshimasa Kamei14Yasushi Okazaki15Shinji Kosugi16Akira Ohtake17Kei Murayama18Center for Medical Genetics, Chiba Children’s HospitalDepartment of Metabolism, Chiba Children’s HospitalDepartment of Pediatrics, Faculty of Medicine, Saitama Medical UniversityDepartment of Pediatrics, Faculty of Medicine, Saitama Medical UniversityDepartment of Metabolism, Chiba Children’s HospitalDepartment of Neonatology, Chiba Children’s HospitalDepartment of Neonatology, Chiba Children’s HospitalDepartment of Metabolism, Chiba Children’s HospitalDepartment of Metabolism, Chiba Children’s HospitalDepartment of Clinical Genomics, Faculty of Medicine, Saitama Medical UniversityDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo UniversityDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo UniversityDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo UniversityDepartment of Clinical Genomics, Faculty of Medicine, Saitama Medical UniversityDepartment of Obstetrics and Gynecology, Saitama Medical University HospitalDiagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo UniversityDepartment of Medical Genetics/Medical Ethics, Kyoto University School of Public HealthDepartment of Pediatrics, Faculty of Medicine, Saitama Medical UniversityCenter for Medical Genetics, Chiba Children’s HospitalAbstract 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.https://doi.org/10.1038/s41598-021-81015-y |
| spellingShingle | 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 Scientific Reports |
| title | 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_short | 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 |
| url | https://doi.org/10.1038/s41598-021-81015-y |
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