Genetic analysis of a patient with late infantile metachromatic leukodystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 153-155, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-781277
ABSTRACT
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.
Full text:
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Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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