Objective: To detect variants of ARSA gene in a child featuring late infantile metachromatic leukodystrophy (MLD).
Methods: PCR and Sanger sequencing was carried out for the patient and her parents.
Results: The patient had typical features of MLD including ARSA deficiency, regression of walking ability, and demyelination. Compound heterozygous variants of the ARSA gene, namely c.960G>A and c.244C>T, were detected in the patient, for which her mother and father were respectively heterozygous carriers. ARSA c.960G>A was known to be pathogenic, while ARSA c.244C>T was a novel variant. The same variants were not detected among 50 healthy controls.
Conclusion: The compound heterozygous variants c.960G>A and c.244C>T of the ARSA gene probably underlie the MLD in this patient.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2020.02.013 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Spectrum of ARSA mutations in Iranian patients with metachromatic leukodystrophy.
Biochem Genet
January 2025
Department of Medical Genetics, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
Metachromatic leukodystrophy (MLD) is an autosomal recessive disorder caused by mutations in the arylsulfatase A (ARSA) gene. Few studies have assessed the spectrum of ARSA mutations among Iranian patients. Here, we report eight Iranian patients with clinical features of MLD.
View Article and Find Full Text PDFMetachromatic Leukodystrophy in Morocco: Identification of Causative Variants by Next-Generation Sequencing (NGS).
Genes (Basel)
November 2024
Servicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
(1) Background: Most rare disease patients endure long delays in obtaining a correct diagnosis, the so-called "diagnostic odyssey", due to a combination of the rarity of their disorder and the lack of awareness of rare diseases among both primary care professionals and specialists. Next-generation sequencing (NGS) techniques that target genes underlying diverse phenotypic traits or groups of diseases are helping reduce these delays; (2) Methods: We used a combination of biochemical (thin-layer chromatography and high-performance liquid chromatography-tandem mass spectrometry), NGS (resequencing gene panels) and splicing assays to achieve a complete diagnosis of three patients with suspected metachromatic leukodystrophy, a neurologic lysosomal disorder; (3) Results: Affected individuals in each family were homozygotes for harmful variants in the gene, one of them novel (c.854+1dup, in family 1) and the other already described (c.
View Article and Find Full Text PDFGenomic Effects of Biomechanical Loading in Adolescent Human Growth Plate Cartilage: A Pilot Study.
Cartilage
December 2024
Division of Paediatric Endocrinology, Department of Women's and Children's Health, Karolinska Institutet, Solna, Sweden.
Objective: The genomic effects of biomechanical loading on human growth plate cartilage are unknown so far. To address this, we used rare human growth plate biopsies obtained from children undergoing epiphysiodesis and exposed them to precisely controlled mechanical loading using a microloading device. The biopsies were cultured 24 hours after mechanical loading, followed by RNA-sequencing analyses to decipher the genomic regulation.
View Article and Find Full Text PDFMulti-Omics Approach Reveals Genes and Pathways Affected in Miller-Dieker Syndrome.
Mol Neurobiol
November 2024
Department of Chemistry and Biochemistry, University of Notre Dame, Notre Dame, IN, 46556, USA.
Miller-Dieker syndrome (MDS) is a rare neurogenetic disorder resulting from a heterozygous deletion of 26 genes in the MDS locus on human chromosome 17. MDS patients often die in utero and only 10% of those who are born reach 10 years of age. Current treatments mostly prevent complications and control seizures.
View Article and Find Full Text PDFARSA Variant Associated With Late Infantile Metachromatic Leukodystrophy and Carrier Rate in Individuals of Ashkenazi Jewish Ancestry.
Am J Med Genet A
October 2024
Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, New York, USA.
Metachromatic leukodystrophy (MLD) is a rare neurodegenerative lysosomal storage disease resulting from bi-allelic pathogenic variants in the ARSA gene. MLD is distinguished clinically based on the age of onset into late-infantile, juvenile, and adult. The late-infantile type is the most severe phenotype presenting with hypotonia, weakness, gait abnormalities, which progresses to mental and physical decline leading to early death.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!