Isfahan University of Medical Sciences

Science Communicator Platform

Stay connected! Follow us on X network (Twitter):
Share this content! On (X network) By
Acer3-Related Leukoencephalopathy: Expanding the Clinical and Imaging Findings Spectrum Due to Novel Variants Publisher Pubmed



Dehnavi AZ1 ; Heidari E2 ; Rasulinezhad M1 ; Heidari M1 ; Ashrafi MR1 ; Hosseini MM1 ; Sadeghzadeh F1 ; Fallah MS3 ; Rostampour N4 ; Bahraini A5, 6 ; Garshasbi M2 ; Tavasoli AR1
Authors
Show Affiliations
Authors Affiliations
  1. 1. Myelin Disorders Clinic, Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
  2. 2. Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran
  3. 3. Kawsar Human Genetics research center, Tehran, Iran
  4. 4. Metabolic Liver Disease Research Center, Isfahan University of Medical Sciences, Isfahan, Iran
  5. 5. Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, United States
  6. 6. KaryoGen, Isfahan, Iran

Source: Human Genomics Published:2021


Abstract

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. © 2021, The Author(s).
Related Docs
View other Related Docs
1. Identification of a Missense Variant in the Eif2b3 Gene Causing Vanishing White Matter Disease With Antenatal-Onset But Mild Symptoms and Long-Term Survival, Journal of Molecular Neuroscience (2021)
2. Using in Silico Bioinformatics Algorithms for the Accurate Prediction of the Impact of Spike Protein Mutations on the Pathogenicity, Stability, and Functionality of the Sars-Cov-2 Virus and Analysis of Potential Therapeutic Targets, Biochemical Genetics (2023)
3. Predicting Deleterious Missense Genetic Variants Via Integrative Supervised Nonnegative Matrix Tri-Factorization, Scientific Reports (2021)
4. Genotypes of European and Iranian Patients With Type 3 Von Willebrand Disease Enrolled in 3Winters-Ips, Blood Advances (2021)
5. Novel Mutation in Htra1 in a Family With Diffuse White Matter Lesions and Inflammatory Features, Neurology: Genetics (2019)
6. A Novel Mutation in Gjc2 Associated With Hypomyelinating Leukodystrophy Type 2 Disorder, Genomics and Informatics (2022)
7. Genetic Variant Effect Prediction by Supervised Nonnegative Matrix Tri-Factorization, Molecular Omics (2021)
8. Whole Exome Sequencing Revealed a Novel Gjb1 Pathogenic Variant and a Rare Bscl2 Mutation in Two Iranian Large Pedigrees With Multiple Affected Cases of Charcot-Marie-Tooth, International Journal of Molecular and Cellular Medicine (2019)
Experts (# of related papers)
View all Related Experts
Mohammad Amin Tabatabaiefar (7)
Mohamadreza Sehhati (2)
Other Related Docs
9. Developmental and Epileptic Encephalopathy 89: A Novel Bi-Allelic Variant, Molecular Dynamics Simulation, and a Comprehensive Clinical and Molecular Profile, Epilepsia Open (2023)
10. Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration, Pediatric Neurology (2020)
11. Novel In-Frame Duplication Variant Characterization in Late Infantile Metachromatic Leukodystrophy Using Whole-Exome Sequencing and Molecular Dynamics Simulation, PLoS ONE (2023)
12. Rars1-Related Hypomyelinating Leukodystrophy-9 (Hld-9) in Two Distinct Iranian Families: Case Report and Literature Review, Molecular Genetics and Genomic Medicine (2024)
13. A Novel Missense Mutation in Gipc3 Causes Sensorineural Hearing Loss in an Iranian Family Revealed by Targeted Next-Generation Sequencing, International Journal of Pediatric Otorhinolaryngology (2018)
14. The Bioinformatics Report of Mutation Outcome on Nadph Flavin Oxidoreductase Protein Sequence in Clinical Isolates of H. Pylori, Current Microbiology (2016)
15. A Novel De Novo Frameshift Variant in the Chd2 Gene Related to Intellectual and Developmental Disability, Seizures and Speech Problems, Molecular Genetics and Genomic Medicine (2024)
16. Mfsd8 Gene Mutations; Evidence for Phenotypic Heterogeneity, Ophthalmic Genetics (2019)
17. Evaluation of Common Col2a1 Gene Variants in Iranian Patients Suspected With Stickler Syndrome Type I, Journal of Research in Medical Sciences (2025)
18. Whole Exome Sequencing Revealed Variants in Four Genes Underlying X-Linked Intellectual Disability in Four Iranian Families: Novel Deleterious Variants and Clinical Features With the Review of Literature, BMC Medical Genomics (2023)
19. Identification of Novel Mutations in Tpk1 and Slc19a3 Genes in Families Exhibiting Thiamine Metabolism Dysfunction Syndrome, Heliyon (2024)
20. Clinical and Genetic Profile of Children With Unexplained Intellectual Disability/Developmental Delay and Epilepsy, Epilepsy Research (2021)
21. Phenotype and Genotype Heterogeneity of Pla2g6-Associated Neurodegeneration in a Cohort of Pediatric and Adult Patients, Orphanet Journal of Rare Diseases (2023)
22. An Overview of Early-Onset Cerebellar Ataxia: A Practical Guideline, Acta Neurologica Belgica (2024)