Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant
The mental retardation-55 with seizures (MRD55) is a rare genetic disease characterized by developmental delay, intellectual disability, language delay and multiple types of epileptic seizures. It is caused by pathogenic variants of the NUS1 gene, which encodes Nogo-B receptor (NgBR), a necessary su...
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Frontiers Media S.A.
2021-08-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2021.725231/full |
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| author | Pingli Zhang Di Cui Peiyuan Liao Xiang Yuan Nuan Yang Yuanyuan Zhen Jing Yang Qikun Huang |
| author_facet | Pingli Zhang Di Cui Peiyuan Liao Xiang Yuan Nuan Yang Yuanyuan Zhen Jing Yang Qikun Huang |
| author_sort | Pingli Zhang |
| collection | DOAJ |
| description | The mental retardation-55 with seizures (MRD55) is a rare genetic disease characterized by developmental delay, intellectual disability, language delay and multiple types of epileptic seizures. It is caused by pathogenic variants of the NUS1 gene, which encodes Nogo-B receptor (NgBR), a necessary subunit for the glycosylation reactions in mammals. To date, 25 disease-causing mutations of NUS1 have been reported, which are responsible for various diseases, including dystonia, Parkinson's disease, developmental and epileptic encephalopathy as well as congenital disorder of glycosylation. In addition, only 9 of these mutations were reported with detailed clinical features. There are no reports about Chinese cases with MRD55. In this study, a novel, de novo pathogenic variant of NUS1 (c.51_54delTCTG, p.L18Tfs*31) was identified in a Chinese patient with intellectual disability and epileptic seizures. This pathogenic variant resulted in truncated NgBR proteins, which might be the cause of the clinical features of the patient. Oxcarbazepine was an effective treatment for improving speech and movement of the patient, who consequently presented with no seizure. With this novel pathogenic variant found in NUS1, we expand the genotype spectrum of MRD55 and provide valuable insights into the potential genotype-phenotype correlation. |
| first_indexed | 2024-12-16T14:51:48Z |
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| issn | 2296-2360 |
| language | English |
| last_indexed | 2024-12-16T14:51:48Z |
| publishDate | 2021-08-01 |
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| series | Frontiers in Pediatrics |
| spelling | doaj.art-5cf6d4a3e3f3456d94293ba620c5dbbc2022-12-21T22:27:35ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602021-08-01910.3389/fped.2021.725231725231Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 VariantPingli Zhang0Di Cui1Peiyuan Liao2Xiang Yuan3Nuan Yang4Yuanyuan Zhen5Jing Yang6Qikun Huang7Department of Pediatrics, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shangdong University, Qingdao, ChinaRunning Gene Inc., Beijing, ChinaDepartment of Pediatrics, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shangdong University, Qingdao, ChinaDepartment of Pediatrics, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shangdong University, Qingdao, ChinaDepartment of Pediatrics, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shangdong University, Qingdao, ChinaDepartment of Pediatrics, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shangdong University, Qingdao, ChinaDepartment of Pediatrics, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shangdong University, Qingdao, ChinaDepartment of Pediatrics, Qilu Hospital (Qingdao), Cheeloo College of Medicine, Shangdong University, Qingdao, ChinaThe mental retardation-55 with seizures (MRD55) is a rare genetic disease characterized by developmental delay, intellectual disability, language delay and multiple types of epileptic seizures. It is caused by pathogenic variants of the NUS1 gene, which encodes Nogo-B receptor (NgBR), a necessary subunit for the glycosylation reactions in mammals. To date, 25 disease-causing mutations of NUS1 have been reported, which are responsible for various diseases, including dystonia, Parkinson's disease, developmental and epileptic encephalopathy as well as congenital disorder of glycosylation. In addition, only 9 of these mutations were reported with detailed clinical features. There are no reports about Chinese cases with MRD55. In this study, a novel, de novo pathogenic variant of NUS1 (c.51_54delTCTG, p.L18Tfs*31) was identified in a Chinese patient with intellectual disability and epileptic seizures. This pathogenic variant resulted in truncated NgBR proteins, which might be the cause of the clinical features of the patient. Oxcarbazepine was an effective treatment for improving speech and movement of the patient, who consequently presented with no seizure. With this novel pathogenic variant found in NUS1, we expand the genotype spectrum of MRD55 and provide valuable insights into the potential genotype-phenotype correlation.https://www.frontiersin.org/articles/10.3389/fped.2021.725231/fullwhole-exome sequencingNUS1epilepsyMRD55ID |
| spellingShingle | Pingli Zhang Di Cui Peiyuan Liao Xiang Yuan Nuan Yang Yuanyuan Zhen Jing Yang Qikun Huang Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant Frontiers in Pediatrics whole-exome sequencing NUS1 epilepsy MRD55 ID |
| title | Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant |
| title_full | Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant |
| title_fullStr | Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant |
| title_full_unstemmed | Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant |
| title_short | Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant |
| title_sort | case report clinical features of a chinese boy with epileptic seizures and intellectual disabilities who carries a truncated nus1 variant |
| topic | whole-exome sequencing NUS1 epilepsy MRD55 ID |
| url | https://www.frontiersin.org/articles/10.3389/fped.2021.725231/full |
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