Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report
Abstract Background The methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megaloblastic anemia levels. This disease is predominantly diagnosed using MTR...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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SpringerOpen
2024-01-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-023-00469-z |
| _version_ | 1827388436659568640 |
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| author | Juan Luo Xiaohong Chen Hongxi Guo Peiwei Zhao Hui Yao Lifang Feng Luhong Yang |
| author_facet | Juan Luo Xiaohong Chen Hongxi Guo Peiwei Zhao Hui Yao Lifang Feng Luhong Yang |
| author_sort | Juan Luo |
| collection | DOAJ |
| description | Abstract Background The methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megaloblastic anemia levels. This disease is predominantly diagnosed using MTR gene variation analysis. Case presentation Herein, we report the case of a 2.1-month-old Chinese girl with the cblG disorder with poor feeding, failure to thrive, and pancytopenia, esotropia, ocular nystagmus, and hypotonia. However, in order to determine the possible genetic cause of the disease, whole-exome sequencing was adopted and detected compound-heterozygous mutations in MTR gene. One was splicing site mutation c.1812 + 3A > G and the other was missense mutation c.2405G > A (p.A802G), which were likely disease-causing mutations (DM). Variant c.1812 + 3A > G has not been reported before in the literature. Conclusion Our data elucidated the genetic etiology of the patient and enriched the known spectrum of mutations in the MTR gene worldwide, offering exhaustive and invaluable insights for early diagnosis and appropriate medication of the cblG disorder. |
| first_indexed | 2024-03-08T16:17:44Z |
| format | Article |
| id | doaj.art-d6cb9edc9dfd4a1fa143a9169ebaf92c |
| institution | Directory Open Access Journal |
| issn | 2090-2441 |
| language | English |
| last_indexed | 2024-03-08T16:17:44Z |
| publishDate | 2024-01-01 |
| publisher | SpringerOpen |
| record_format | Article |
| series | Egyptian Journal of Medical Human Genetics |
| spelling | doaj.art-d6cb9edc9dfd4a1fa143a9169ebaf92c2024-01-07T12:29:08ZengSpringerOpenEgyptian Journal of Medical Human Genetics2090-24412024-01-012511810.1186/s43042-023-00469-zNovel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case reportJuan Luo0Xiaohong Chen1Hongxi Guo2Peiwei Zhao3Hui Yao4Lifang Feng5Luhong Yang6Department of Endocrinology and Metabolism, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Endocrinology and Metabolism, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of General Surgery, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and TechnologyPrecision Medical Center, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Endocrinology and Metabolism, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Endocrinology and Metabolism, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and TechnologyDepartment of Endocrinology and Metabolism, Wuhan Children’s Hospital, Tongji Medical College, Huazhong University of Science and TechnologyAbstract Background The methylcobalamin deficiency G (cblG) disorder, a rare autosomal recessive disease, is attributed to mutations in the MTR gene, resulting in heightened homocysteine levels and reduced methionine and megaloblastic anemia levels. This disease is predominantly diagnosed using MTR gene variation analysis. Case presentation Herein, we report the case of a 2.1-month-old Chinese girl with the cblG disorder with poor feeding, failure to thrive, and pancytopenia, esotropia, ocular nystagmus, and hypotonia. However, in order to determine the possible genetic cause of the disease, whole-exome sequencing was adopted and detected compound-heterozygous mutations in MTR gene. One was splicing site mutation c.1812 + 3A > G and the other was missense mutation c.2405G > A (p.A802G), which were likely disease-causing mutations (DM). Variant c.1812 + 3A > G has not been reported before in the literature. Conclusion Our data elucidated the genetic etiology of the patient and enriched the known spectrum of mutations in the MTR gene worldwide, offering exhaustive and invaluable insights for early diagnosis and appropriate medication of the cblG disorder.https://doi.org/10.1186/s43042-023-00469-zMTR geneHyperhomocysteinemia (HHcy)Methylcobalamin deficiency G (cblG) disorderMethionine synthase (MS)Whole-exome sequencing (WES) |
| spellingShingle | Juan Luo Xiaohong Chen Hongxi Guo Peiwei Zhao Hui Yao Lifang Feng Luhong Yang Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report Egyptian Journal of Medical Human Genetics MTR gene Hyperhomocysteinemia (HHcy) Methylcobalamin deficiency G (cblG) disorder Methionine synthase (MS) Whole-exome sequencing (WES) |
| title | Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report |
| title_full | Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report |
| title_fullStr | Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report |
| title_full_unstemmed | Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report |
| title_short | Novel MTR compound-heterozygous mutations in a Chinese girl with HHcy due to methionine synthase deficiency, cblG: a case report |
| title_sort | novel mtr compound heterozygous mutations in a chinese girl with hhcy due to methionine synthase deficiency cblg a case report |
| topic | MTR gene Hyperhomocysteinemia (HHcy) Methylcobalamin deficiency G (cblG) disorder Methionine synthase (MS) Whole-exome sequencing (WES) |
| url | https://doi.org/10.1186/s43042-023-00469-z |
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