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Case Reports
. 2014 Oct;31(5):615-8.
doi: 10.3760/cma.j.issn.1003-9406.2014.01.017.

[Analysis of Phenotype and Genotype in a Family With Late Infantile Metachromatic Leukodystrophy]

[Article in Chinese]
Affiliations
Case Reports

[Analysis of Phenotype and Genotype in a Family With Late Infantile Metachromatic Leukodystrophy]

[Article in Chinese]
Juan Yang et al. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. .

Abstract

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.

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