Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease: detection of fourteen novel alleles.

A. L. Montalvo, Mirella Filocamo, Kristian Vlahovicek, Andrea Dardis, Susanna Lualdi, Fabio Corsolini, Bruno Bembi, Maria Gabriela Pittis

Research output: Contribution to journalArticlepeer-review

Abstract

Tay-Sachs disease (TSD) is a recessively inherited disorder caused by the hexosaminidase A deficiency. We report the molecular characterization performed on 31 Italian patients, 22 with the infantile, acute form of TSD and nine patients with the subacute juvenile form, biochemically classified as B1 Variant. Of the 29 different alleles identified, fourteen were due to 15 novel mutations, two being in-cis on a new complex allele. The new alleles caused four frameshifts, three premature stop codons, three amino acid changes, two amino acid deletions and two splicing alterations. As previously reported, the c.533G>A (p.R178H) mutation was present either in homozygosity or as compound heterozygote, in all the patients with the late onset TSD form (B1 Variant); the allele frequency in this group is discussed by comparison with that found in infantile TSD.

Original languageEnglish
Pages (from-to)282
Number of pages1
JournalHuman Mutation
Volume26
Issue number3
Publication statusPublished - Sep 2005

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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