Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene
(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-...
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MDPI AG
2020-10-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/10/10/821 |
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| author | Aleksandra Jezela-Stanek Witold Blaz Artur Gora Malgorzata Bochenska Katarzyna Kusmierska Jolanta Sykut-Cegielska |
| author_facet | Aleksandra Jezela-Stanek Witold Blaz Artur Gora Malgorzata Bochenska Katarzyna Kusmierska Jolanta Sykut-Cegielska |
| author_sort | Aleksandra Jezela-Stanek |
| collection | DOAJ |
| description | (1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-five patients were reported to date. (2) Methods: Our paper aimed to delineate the disease genotype by presenting another patient, in whom a novel, in-frame variant within the <i>MOCS2</i> gene was identified. (3) Results: Exome sequencing led to the identification of a novel variant in the <i>MOCS2</i> gene-c.472_477del of unknown significance (VUS). (4) Conclusions: To prove the clinical significance of the mentioned variant, analysis of the possible mutation consequences on molecular level with the use of the available crystal structure of the human molybdopterin synthase complex was of great importance. Moreover, a potential pathomechanism resulting from a molecular defect was presented, giving original insight into the current knowledge on this rare disease, including treatment options. |
| first_indexed | 2024-03-10T15:38:08Z |
| format | Article |
| id | doaj.art-1c2c36dbea9d4297b1e7a043737ab038 |
| institution | Directory Open Access Journal |
| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-03-10T15:38:08Z |
| publishDate | 2020-10-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-1c2c36dbea9d4297b1e7a043737ab0382023-11-20T17:02:15ZengMDPI AGDiagnostics2075-44182020-10-01101082110.3390/diagnostics10100821Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> GeneAleksandra Jezela-Stanek0Witold Blaz1Artur Gora2Malgorzata Bochenska3Katarzyna Kusmierska4Jolanta Sykut-Cegielska5Department of Genetics and Clinical Immunology, National Institute of Tuberculosis and Lung Diseases, 01-138 Warsaw, PolandClinical Department of Neonatology and NICU, Saint Jadwiga the Queen Clinical Provincial Hospital No2, 35-301 Rzeszow, PolandTunneling Group, Biotechnology Centre, Silesian University of Technology, 44-100 Gliwice, PolandClinical Department of Pediatric Neurology, Saint Jadwiga the Queen Clinical Provincial Hospital No2, 35-301 Rzeszow, PolandDepartment of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, 01-211 Warsaw, PolandDepartment of Inborn Errors of Metabolism and Paediatrics, Institute of Mother and Child, 01-211 Warsaw, Poland(1) Background: Molybdenum cofactor deficiency type B (MOCODB, #252160) is a rare autosomal recessive metabolic disorder characterized by intractable seizures of neonatal-onset, muscular spasticity, accompanying with hypouricemia, elevated urinary sulfite levels and craniofacial dysmorphism. Thirty-five patients were reported to date. (2) Methods: Our paper aimed to delineate the disease genotype by presenting another patient, in whom a novel, in-frame variant within the <i>MOCS2</i> gene was identified. (3) Results: Exome sequencing led to the identification of a novel variant in the <i>MOCS2</i> gene-c.472_477del of unknown significance (VUS). (4) Conclusions: To prove the clinical significance of the mentioned variant, analysis of the possible mutation consequences on molecular level with the use of the available crystal structure of the human molybdopterin synthase complex was of great importance. Moreover, a potential pathomechanism resulting from a molecular defect was presented, giving original insight into the current knowledge on this rare disease, including treatment options.https://www.mdpi.com/2075-4418/10/10/821molybdenum cofactor deficiency type B<i>MOCS2</i> genecrystal protein structure |
| spellingShingle | Aleksandra Jezela-Stanek Witold Blaz Artur Gora Malgorzata Bochenska Katarzyna Kusmierska Jolanta Sykut-Cegielska Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene Diagnostics molybdenum cofactor deficiency type B <i>MOCS2</i> gene crystal protein structure |
| title | Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene |
| title_full | Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene |
| title_fullStr | Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene |
| title_full_unstemmed | Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene |
| title_short | Proteins Structure Models in the Evaluation of Novel Variant (C.472_477del) in the <i>MOCS2</i> Gene |
| title_sort | proteins structure models in the evaluation of novel variant c 472 477del in the i mocs2 i gene |
| topic | molybdenum cofactor deficiency type B <i>MOCS2</i> gene crystal protein structure |
| url | https://www.mdpi.com/2075-4418/10/10/821 |
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