An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient.
A metachromatic leukodystrophy (MLD) patient affected with the late infantile form was found to be homozygous for an AT-deletion (2324delAT) in the arylsulfatase A gene. The mutation causes a frameshift at the beginning of exon 8 leading to an early termination codon. The parents and unaffected brother of the patient were heterozygous for the microdeletion. The mutation was not detected in another 31 MLD Italian patients. No aberrant transcript caused by the mutation was revealed by the reverse transcription-polymerase chain reaction method.
Regis
S
S
Laboratorio di Diagnosi Pre e Post-Natale di Malattie Metaboliche, Istituto G. Gaslini, Genova, Italy.
Carrozzo
R
R
Filocamo
M
M
Serra
G
G
Mastropaolo
C
C
Gatti
R
R
D000595:Amino Acid Sequence; D001483:Base Sequence; D002553:Cerebroside-Sulfatase / Q000235:genetics*; D018388:Codon, Terminator / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D016368:Frameshift Mutation; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007558:Italy / Q000453:epidemiology; D007966:Leukodystrophy, Metachromatic / Q000453:epidemiology / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017384:Sequence Deletion
D018388:Codon, Terminator; D002553:Cerebroside-Sulfatase