[Analysis of phenotype and genotype in a family with late infantile metachromatic leukodystrophy].

Objective: To study genotype-phenotype correlation of a family with late infantile metachromatic leukodystrophy(MLD).
Methods: Clinical data were collected and ARSA gene was tested by PCR and sequencing in a pedigree.
Results: The male proband onset with walking dysfunction at 19 months, arylsulfatase A activity of leucocyte from his peripheral blood was 20.2 nmol/mg.17h, and his cranial MRI showed wildly symmetrical demyelination. Homozygosis for novel c.622delC (p.His208Metfs46X) in exon 3 of ARSA gene was identified in proband, and heterozygous for the same mutation in parents and grandma of the proband.
Conclusion: Late infantile metachromatic leukodystrophy is characterized by rapid and progressive regression of neuropsychiatric and motor development. There is a significant correlation between the mutation of c.622delC(p.His208Metfs*46) in the ARSA gene and the phenotype presenting as O/O patients.