[Genetic analysis of a patient with late infantile metachromatic leukodystrophy].

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.