An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient
| Autor: | Camillo Mastropaolo, Romeo Carrozzo, Gigliola Serra, Mirella Filocamo, Rosanna Gatti, Stefano Regis |
|---|---|
| Rok vydání: | 1995 |
| Předmět: |
Male
Heterozygote Molecular Sequence Data Biology complex mixtures Frameshift mutation Exon Degenerative disease Genetics medicine Humans Amino Acid Sequence Frameshift Mutation Gene Cerebroside-Sulfatase Genetics (clinical) Sequence Deletion Base Sequence Cerebroside-sulfatase Homozygote Infant Exons Leukodystrophy Metachromatic medicine.disease Stop codon Pedigree Metachromatic leukodystrophy Italy Mutation (genetic algorithm) Codon Terminator Female |
| Zdroj: | Human Genetics. 96:233-235 |
| ISSN: | 1432-1203 0340-6717 |
| DOI: | 10.1007/bf00207387 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full text from SpringerLink