An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy.
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 11-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.
Bohne
W
W
Abteilung Biochemie II, Georg-August-Universität, Federal Republic of Germany.
von Figura
K
K
Gieselmann
V
V
D000595:Amino Acid Sequence; D001483:Base Sequence; D015152:Blotting, Northern; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D005784:Gene Amplification; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D008969:Molecular Sequence Data; D005810:Multigene Family; D015345:Oligonucleotide Probes; D012150:Polymorphism, Restriction Fragment Length
D015345:Oligonucleotide Probes; D002553:Cerebroside-Sulfatase