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Updated: Dec 29, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
[Genetic analysis of a patient with late infantile metachromatic leukodystrophy]
Ke Yang1, Yuwei Zhang, Guiyu Lou
1Henan Provincial Institute of Medical Genetics, People's Hospital of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, China. ychslshx@126.com.
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.
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