Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability
ABSTRACT Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the NUS1 gene in epilepsy, spinal abnormalities, and intellectual disability,...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2025-01-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.70022 |
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| author | Jing Y. Hsu Daniah H. Ibrahim Riza Ali Elaine Marchi Maureen Gavin Karen Amble Gholson J. Lyon |
| author_facet | Jing Y. Hsu Daniah H. Ibrahim Riza Ali Elaine Marchi Maureen Gavin Karen Amble Gholson J. Lyon |
| author_sort | Jing Y. Hsu |
| collection | DOAJ |
| description | ABSTRACT Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the NUS1 gene in epilepsy, spinal abnormalities, and intellectual disability, thereby expanding its known phenotypic associations. |
| format | Article |
| id | doaj-art-2660b39fdac54874844bdd5ff74461c9 |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-2660b39fdac54874844bdd5ff74461c92025-01-24T05:08:46ZengWileyClinical Case Reports2050-09042025-01-01131n/an/a10.1002/ccr3.70022Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual DisabilityJing Y. Hsu0Daniah H. Ibrahim1Riza Ali2Elaine Marchi3Maureen Gavin4Karen Amble5Gholson J. Lyon6Rosalind Franklin University of Medicine and Science Chicago Illinois USARosalind Franklin University of Medicine and Science Chicago Illinois USARosalind Franklin University of Medicine and Science Chicago Illinois USADepartment of Human Genetics New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USAGeorge A. Jervis Clinic New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USAGeorge A. Jervis Clinic New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USADepartment of Human Genetics New York State Institute for Basic Research in Developmental Disabilities Staten Island New York USAABSTRACT Copy number variations (CNVs) contribute to various disorders including intellectual disability, developmental disorders, and cancer. This study identifies a de novo 2.62 Mb deletion at 6q22.1_q22.31, implicating the NUS1 gene in epilepsy, spinal abnormalities, and intellectual disability, thereby expanding its known phenotypic associations.https://doi.org/10.1002/ccr3.70022DNA copy number variationsepilepsyintellectual disabilityNUS1 proteinprotein glycosylation |
| spellingShingle | Jing Y. Hsu Daniah H. Ibrahim Riza Ali Elaine Marchi Maureen Gavin Karen Amble Gholson J. Lyon Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability Clinical Case Reports DNA copy number variations epilepsy intellectual disability NUS1 protein protein glycosylation |
| title | Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability |
| title_full | Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability |
| title_fullStr | Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability |
| title_full_unstemmed | Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability |
| title_short | Novel Copy Number Deletion Involving NUS1 Associated With Epilepsy, Tremor, and Intellectual Disability |
| title_sort | novel copy number deletion involving nus1 associated with epilepsy tremor and intellectual disability |
| topic | DNA copy number variations epilepsy intellectual disability NUS1 protein protein glycosylation |
| url | https://doi.org/10.1002/ccr3.70022 |
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