| Autor: |
Shintaro Kinoshita, Miki Ando, Jun Ando, Midori Ishii, Yoshiki Furukawa, Osamu Tomita, Yoko Azusawa, Shuichi Shirane, Yoshihito Kishita, Yukiko Yatsuka, Hidetaka Eguchi, Yasushi Okazaki, Norio Komatsu |
| Jazyk: |
angličtina |
| Rok vydání: |
2021 |
| Předmět: |
|
| Zdroj: |
Heliyon, Vol 7, Iss 8, Pp e07804- (2021) |
| Druh dokumentu: |
article |
| ISSN: |
2405-8440 |
| DOI: |
10.1016/j.heliyon.2021.e07804 |
| Popis: |
Trio-next generation sequencing is useful to identify undiagnosed inherited diseases. We have attended a patient with trigenic ADH5/ALDH2/ADGRV1 pathogenic variants, which caused two distinct diseases, myelodysplastic syndrome and Usher syndrome. Whole genome sequencing of peripheral blood from the patient and his parents were applied to identify disease-causing genes. Sanger sequencing was performed to validate the identified ADH5/ALDH2/ADGRV1 variants. Our results identified disease-associated variants in ADGRV1 (disease inheritance autosomal recessive) and in ADH5 (disease inheritance also autosomal recessive) and a variant in ALDH2 (disease inheritance autosomal dominant). Although the variants identified in ADH5 and ALDH2 have been reported, their co-existence in association with disease-causing variation in a third gene has not. They broaden the spectrum of ADGRV1 in Usher syndrome. Findings on next generation sequencing guided rapid and accurate diagnosis, resulting in patient-tailored therapeutic intervention. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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