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Войти в исследования Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics · 2020
[Genetic analysis of a patient with late infantile metachromatic leukodystrophy].
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Yang Ke, Zhang Yuwei, Lou Guiyu, Qi Na, Wang Ling, Zhu Hongjie, Zhang Bing, Wang Dan, Liao Shixiu
Аннотация
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.
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.