ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38
Abstract Developmental and epileptic encephalopathy is a rare and severe form of inherited neurodegenerative disorder characterized by various forms of seizures. This condition typically manifests between 4 and 7 months. Recent investigations have established a correlation between mutations in the A...
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| Format: | Article |
| Language: | English |
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Springer
2025-02-01
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| Series: | Journal of Rare Diseases |
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| Online Access: | https://doi.org/10.1007/s44162-025-00066-1 |
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| author | Mostafa Neissi Ayoob Radhi Al-Zaalan Misagh Mohammadi-Asl Mojdeh Roghani Javad Mohammadi-Asl Kamele Jorfi |
| author_facet | Mostafa Neissi Ayoob Radhi Al-Zaalan Misagh Mohammadi-Asl Mojdeh Roghani Javad Mohammadi-Asl Kamele Jorfi |
| author_sort | Mostafa Neissi |
| collection | DOAJ |
| description | Abstract Developmental and epileptic encephalopathy is a rare and severe form of inherited neurodegenerative disorder characterized by various forms of seizures. This condition typically manifests between 4 and 7 months. Recent investigations have established a correlation between mutations in the ARV1 gene and the development of developmental and epileptic encephalopathy-38. Here, we report a 4-year-old girl from a consanguineous Iranian family diagnosed with developmental and epileptic encephalopathy-38. The patient presented with seizures, microcephaly, and abnormal MRI findings. Despite conventional anti-seizure drugs, seizures persisted from infancy. Tragically, her elder sibling with identical symptoms succumbed to the condition at 11 months. In this case report, we performed whole exome sequencing in an individual diagnosed with developmental and epileptic encephalopathy-38 in an Iranian family, revealing a novel homozygous mutation in the ARV1 gene (c.184C > T [p.Gln62Ter] in exon 2, NM_022786.3). Parental carriers displayed no symptoms, underscoring the importance of whole exome sequencing for accurate diagnosis and informed family planning decisions. These findings contribute to the understanding of the genetic spectrum of developmental and epileptic encephalopathy-38. The use of whole exome sequencing revealed a rare and likely pathogenic ARV1 gene mutation, emphasizing the significance of this genetic screening method in unraveling the complexities of developmental and epileptic encephalopathies. |
| format | Article |
| id | doaj-art-538338fbfda848d0b5713b4653bdea53 |
| institution | Kabale University |
| issn | 2731-085X |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Springer |
| record_format | Article |
| series | Journal of Rare Diseases |
| spelling | doaj-art-538338fbfda848d0b5713b4653bdea532025-02-09T12:59:38ZengSpringerJournal of Rare Diseases2731-085X2025-02-01411810.1007/s44162-025-00066-1ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38Mostafa Neissi0Ayoob Radhi Al-Zaalan1Misagh Mohammadi-Asl2Mojdeh Roghani3Javad Mohammadi-Asl4Kamele Jorfi5Department of Genetics, Khuzestan Science and Research Branch, Islamic Azad UniversityDepartment of Medical Lab Technology, College of Health and Medical Technology, Southern Technical UniversityNoor-Gene Genetic LaboratoryNoor-Gene Genetic LaboratoryNoor-Gene Genetic LaboratoryNoor-Gene Genetic LaboratoryAbstract Developmental and epileptic encephalopathy is a rare and severe form of inherited neurodegenerative disorder characterized by various forms of seizures. This condition typically manifests between 4 and 7 months. Recent investigations have established a correlation between mutations in the ARV1 gene and the development of developmental and epileptic encephalopathy-38. Here, we report a 4-year-old girl from a consanguineous Iranian family diagnosed with developmental and epileptic encephalopathy-38. The patient presented with seizures, microcephaly, and abnormal MRI findings. Despite conventional anti-seizure drugs, seizures persisted from infancy. Tragically, her elder sibling with identical symptoms succumbed to the condition at 11 months. In this case report, we performed whole exome sequencing in an individual diagnosed with developmental and epileptic encephalopathy-38 in an Iranian family, revealing a novel homozygous mutation in the ARV1 gene (c.184C > T [p.Gln62Ter] in exon 2, NM_022786.3). Parental carriers displayed no symptoms, underscoring the importance of whole exome sequencing for accurate diagnosis and informed family planning decisions. These findings contribute to the understanding of the genetic spectrum of developmental and epileptic encephalopathy-38. The use of whole exome sequencing revealed a rare and likely pathogenic ARV1 gene mutation, emphasizing the significance of this genetic screening method in unraveling the complexities of developmental and epileptic encephalopathies.https://doi.org/10.1007/s44162-025-00066-1Developmental and epileptic encephalopathy-38ARV1 geneMutation |
| spellingShingle | Mostafa Neissi Ayoob Radhi Al-Zaalan Misagh Mohammadi-Asl Mojdeh Roghani Javad Mohammadi-Asl Kamele Jorfi ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 Journal of Rare Diseases Developmental and epileptic encephalopathy-38 ARV1 gene Mutation |
| title | ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 |
| title_full | ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 |
| title_fullStr | ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 |
| title_full_unstemmed | ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 |
| title_short | ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 |
| title_sort | arv1 p gln62ter a novel mutation linked to developmental and epileptic encephalopathy 38 |
| topic | Developmental and epileptic encephalopathy-38 ARV1 gene Mutation |
| url | https://doi.org/10.1007/s44162-025-00066-1 |
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