A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia
We describe a case of 5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency characterized by microcephaly, global developmental delay, epilepsy, and cerebral hypomyelination. Whole exome sequencing (WES) demonstrated homozygosity for the R74X mutation in the MTHFS gene. The patient had the une...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Elsevier
2019-12-01
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| Series: | Molecular Genetics and Metabolism Reports |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2214426919301429 |
| _version_ | 1819152261104795648 |
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| author | Jacqueline A. Romero Imane Abdelmoumen Daphne Hasbani Divya S. Khurana Michael C. Schneider |
| author_facet | Jacqueline A. Romero Imane Abdelmoumen Daphne Hasbani Divya S. Khurana Michael C. Schneider |
| author_sort | Jacqueline A. Romero |
| collection | DOAJ |
| description | We describe a case of 5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency characterized by microcephaly, global developmental delay, epilepsy, and cerebral hypomyelination. Whole exome sequencing (WES) demonstrated homozygosity for the R74X mutation in the MTHFS gene. The patient had the unexpected finding of elevated cerebrospinal fluid (CSF) neopterin. The novel finding of macrocytic anemia in this patient may provide a clue to the diagnosis of this rare neurometabolic disorder. Keywords: 5,10-methenyltetrahydrofolate synthetase, MTHFS, Folate, Cerebral hypomyelination |
| first_indexed | 2024-12-22T14:46:29Z |
| format | Article |
| id | doaj.art-aaaf75061f7241a5add74793a2cab0cb |
| institution | Directory Open Access Journal |
| issn | 2214-4269 |
| language | English |
| last_indexed | 2024-12-22T14:46:29Z |
| publishDate | 2019-12-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Molecular Genetics and Metabolism Reports |
| spelling | doaj.art-aaaf75061f7241a5add74793a2cab0cb2022-12-21T18:22:26ZengElsevierMolecular Genetics and Metabolism Reports2214-42692019-12-0121A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemiaJacqueline A. Romero0Imane Abdelmoumen1Daphne Hasbani2Divya S. Khurana3Michael C. Schneider4Corresponding author at: St. Christopher's Hospital for Children, Section of Child Neurology and Metabolism, Department of Pediatrics, Drexel University College of Medicine, 160 E. Erie Avenue, Philadelphia, PA 19134, USA.; Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USASection of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USASection of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USASection of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USASection of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, PA, USAWe describe a case of 5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency characterized by microcephaly, global developmental delay, epilepsy, and cerebral hypomyelination. Whole exome sequencing (WES) demonstrated homozygosity for the R74X mutation in the MTHFS gene. The patient had the unexpected finding of elevated cerebrospinal fluid (CSF) neopterin. The novel finding of macrocytic anemia in this patient may provide a clue to the diagnosis of this rare neurometabolic disorder. Keywords: 5,10-methenyltetrahydrofolate synthetase, MTHFS, Folate, Cerebral hypomyelinationhttp://www.sciencedirect.com/science/article/pii/S2214426919301429 |
| spellingShingle | Jacqueline A. Romero Imane Abdelmoumen Daphne Hasbani Divya S. Khurana Michael C. Schneider A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia Molecular Genetics and Metabolism Reports |
| title | A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia |
| title_full | A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia |
| title_fullStr | A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia |
| title_full_unstemmed | A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia |
| title_short | A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia |
| title_sort | case of 5 10 methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia |
| url | http://www.sciencedirect.com/science/article/pii/S2214426919301429 |
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