Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease
Abstract Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched‐chain α‐keto acid dehydrogenase (BCKDH) compl...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2020-08-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1337 |
| _version_ | 1797301037016547328 |
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| author | Thi T. N. Nguyen Chi D. Vu Ngoc L. Nguyen Thi T. H. Nguyen Ngoc K. Nguyen Huy H. Nguyen |
| author_facet | Thi T. N. Nguyen Chi D. Vu Ngoc L. Nguyen Thi T. H. Nguyen Ngoc K. Nguyen Huy H. Nguyen |
| author_sort | Thi T. N. Nguyen |
| collection | DOAJ |
| description | Abstract Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched‐chain α‐keto acid dehydrogenase (BCKDH) complex. In the present study, novel pathogenic variants in BCKDHB and DBT genes were identified in three Vietnamese families with MSUD. Methods Three newborn patients from three unrelated Vietnamese families were diagnosed with MSUD at the Metabolic Clinic, National Hospital of Pediatrics. Blood samples of 11 relatives from two generations of the three families diagnosed with MSUD were analyzed using exome and Sanger sequencing analyses. Results Novel pathogenic variants in BCKDHB (c.1103C>T, c.989A>G, and c.704G>A), and DBT (c.263_265delAAG) genes were identified in three pediatric patients with MSUD. Conclusions We have identified novel pathogenic variants in the MSUD‐related genes in the pedigree of the three patient's families. Our findings expand the mutational spectrum of MSUD and provide the scientific basis for genetic counseling for the patient's families. |
| first_indexed | 2024-03-07T23:15:39Z |
| format | Article |
| id | doaj.art-11947fea7d30488fb48eb914c8245774 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-03-07T23:15:39Z |
| publishDate | 2020-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-11947fea7d30488fb48eb914c82457742024-02-21T11:08:50ZengWileyMolecular Genetics & Genomic Medicine2324-92692020-08-0188n/an/a10.1002/mgg3.1337Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine diseaseThi T. N. Nguyen0Chi D. Vu1Ngoc L. Nguyen2Thi T. H. Nguyen3Ngoc K. Nguyen4Huy H. Nguyen5Institute of Genome ResearchVietnam Academy of Science and Technology (VAST) Hanoi VietnamNational Hospital of Pediatrics Hanoi VietnamInstitute of Genome ResearchVietnam Academy of Science and Technology (VAST) Hanoi VietnamInstitute of Genome ResearchVietnam Academy of Science and Technology (VAST) Hanoi VietnamNational Hospital of Pediatrics Hanoi VietnamInstitute of Genome ResearchVietnam Academy of Science and Technology (VAST) Hanoi VietnamAbstract Background Maple sirup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder. The disease‐causing mutations can affect the BCKDHA, BCKDHB, and DBT genes encoding for the E1α, E1β, and E2 subunits of the multienzyme branched‐chain α‐keto acid dehydrogenase (BCKDH) complex. In the present study, novel pathogenic variants in BCKDHB and DBT genes were identified in three Vietnamese families with MSUD. Methods Three newborn patients from three unrelated Vietnamese families were diagnosed with MSUD at the Metabolic Clinic, National Hospital of Pediatrics. Blood samples of 11 relatives from two generations of the three families diagnosed with MSUD were analyzed using exome and Sanger sequencing analyses. Results Novel pathogenic variants in BCKDHB (c.1103C>T, c.989A>G, and c.704G>A), and DBT (c.263_265delAAG) genes were identified in three pediatric patients with MSUD. Conclusions We have identified novel pathogenic variants in the MSUD‐related genes in the pedigree of the three patient's families. Our findings expand the mutational spectrum of MSUD and provide the scientific basis for genetic counseling for the patient's families.https://doi.org/10.1002/mgg3.1337BCKDBCKDHBDBTexome sequencingmaple sirup urine disease |
| spellingShingle | Thi T. N. Nguyen Chi D. Vu Ngoc L. Nguyen Thi T. H. Nguyen Ngoc K. Nguyen Huy H. Nguyen Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease Molecular Genetics & Genomic Medicine BCKD BCKDHB DBT exome sequencing maple sirup urine disease |
| title | Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease |
| title_full | Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease |
| title_fullStr | Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease |
| title_full_unstemmed | Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease |
| title_short | Identification of novel mutations in BCKDHB and DBT genes in Vietnamese patients with maple sirup urine disease |
| title_sort | identification of novel mutations in bckdhb and dbt genes in vietnamese patients with maple sirup urine disease |
| topic | BCKD BCKDHB DBT exome sequencing maple sirup urine disease |
| url | https://doi.org/10.1002/mgg3.1337 |
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