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An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy

✍ Scribed by Wolfgang Bohne; Kurt Figura; Volkmar Gieselmann

Publisher: Springer
Year: 1991
Tongue: English
Weight: 572 KB
Volume: 87
Category: Article
ISSN: 0340-6717
DOI: 10.1007/bf00204172

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✦ Synopsis

Metachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulfatase A. Examination of the arylsulfatase A gene in a patient suffering from late infantile metachromatic leukodystrophy revealed an ll-bp deletion in exon 8. Although this allele produces normal amounts of ASA mRNA, no arylsulfatase A cross-reacting material could be detected in cultured fibroblasts from the patient. The patient was found to be a compound heterozygote, the other allele is also known to generate no ASA polypeptides. This patient is another example where absence of ASA polypeptides correlates with the severe late infantile form of metachromatic leukodystrophy.

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