Identification of a Novel ARSA Gene Mutation Through High-Throughput Molecular Diagnosis Method in Two Girls with Late Infantile Metachromatic Leukodystrophy

Author:

Yari Abolfazl,Vafaeie Farzane,Karam Zahra Miri,Hosseini Mahya,Hashemzade Hassan,Rahimi Maryam Sadat,Ehsanbakhsh Alireza,Miri-Moghaddam Ebrahim

Funder

Birjand University of Medical Sciences

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Neurology,Molecular Medicine

Reference22 articles.

1. Antony, J. S., Daniel-Moreno, A., Lamsfus-Calle, A., Raju, J., Kaftancioglu, M., Ureña-Bailén, G., Rottenberger, J., Hou, Y., Santhanakumaran, V., Lee, J. H., & Heumos, L. (2022). A mutation-agnostic hematopoietic stem cell gene therapy for metachromatic leukodystrophy. The CRISPR Journal, 5(1), 66–79. https://doi.org/10.1089/CRISPR.2021.0075

2. Ataei, Z., Nouri, Z., Tavakoli, F., Pourreza, M. R., Narrei, S., & Tabatabaiefar, M. A. (2023). Novel in-frame duplication variant characterization in late infantile metachromatic leukodystrophy using whole-exome sequencing and molecular dynamics simulation. PLoS ONE, 18(2), e0282304. https://doi.org/10.1371/JOURNAL.PONE.0282304

3. Barboura, I., Maire, I., Ferchichi, S., Miled, A., Barboura, I., & Maire, I. (2012). Metachromatic leukodystrophy clinical. In Tan, U. (Ed.), Latest findings in intellectual and developmental disabilities research biological and therapeutic aspects. IntechOpen.

4. Beerepoot, S., van Dooren, S. J. M., Salomons, G. S., Boelens, J. J., Jacobs, E. H., van der Knaap, M. S., van Kuilenburg, A. B., & Wolf, N. I. (2020). Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients. Neurogenetics, 21(4), 289–299. https://doi.org/10.1007/S10048-020-00621-6/TABLES/1

5. Borges, F. M., Costa, M. J. G. D., Carneiro, Z. A., & Lourenço, C. M. (2020). Metachromatic leukodystrophy: Pediatric presentation and the challenges of early diagnosis. Revista Da Associacao Medica Brasileira, 66(10), 1461. https://doi.org/10.1590/1806-9282.66.10.1344

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