An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient

Stefano Regis, Romeo Carrozzo, Mirella Filocamo, Gigliola Serra, Camillo Mastropaolo, Rosanna Gatti

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)233-235
Number of pages3
JournalHuman Genetics
Volume96
Issue number2
DOIs
Publication statusPublished - Aug 1995

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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