ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants
| Autor: | Maryam Rasulinezhad, Noushin Rostampour, Ali Zare Dehnavi, Morteza Heidari, Mahmoud Reza Ashrafi, Mohammad-Sadegh Fallah, Erfan Heidari, Mohammad Mahdi Hosseini, Ali Reza Tavasoli, Masoud Garshasbi, Fatemeh Sadeghzadeh, Amir Bahraini |
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| Rok vydání: | 2021 |
| Předmět: |
Adult
Male 0301 basic medicine Adolescent Context (language use) QH426-470 Alkaline Ceramidase Bioinformatics Leukoencephalopathy Young Adult 03 medical and health sciences Magnetic resonance imaging 0302 clinical medicine Leukoencephalopathies Exome Sequencing Drug Discovery Genetics medicine Humans Genetic Predisposition to Disease Child Molecular Biology Exome sequencing Dystonia business.industry Leukodystrophy Infant medicine.disease Human genetics Alkaline Ceramidase 3 030104 developmental biology Child Preschool Whole-exome sequencing Mutation Medicine Molecular Medicine Female Primary Research business Developmental regression 030217 neurology & neurosurgery |
| Zdroj: | Human Genomics, Vol 15, Iss 1, Pp 1-11 (2021) Human Genomics |
| ISSN: | 1479-7364 |
| DOI: | 10.1186/s40246-021-00345-0 |
| Popis: | Background Leukodystrophies are the main subgroup of inherited CNS white matter disorders which cause significant mortality and morbidity in early years of life. Diagnosis is mostly based on clinical context and neuroimaging findings; however, genetic tools, particularly whole-exome sequencing (WES), have led to comprehending the causative gene and molecular events contributing to these disorders. Mutation in Alkaline Ceramidase 3 (ACER3) gene which encodes alkaline ceramidase enzyme that plays a crucial role in cellular growth and viability has been stated as an uncommon reason for inherited leukoencephalopathies. Merely only two ACER3 mutations in cases of progressive leukodystrophies have been reported thus far. Results In the current study, we have identified three novel variants in ACER3 gene in cases with new neurological manifestations including developmental regression, dystonia, and spasticity. The detected variants were segregated into family members. Conclusion Our study expands the clinical, neuroimaging, electroencephalographic, and genetic spectrum of ACER3 mutations. Furthermore, we reviewed and compared the findings of all the previously reported cases and the cases identified here in order to facilitate their diagnosis and management. |
| Databáze: | OpenAIRE |
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