TY - JOUR
T1 - Molecular analysis of the HEXA gene in Italian patients with infantile and late onset Tay-Sachs disease
T2 - detection of fourteen novel alleles.
AU - Montalvo, A. L.
AU - Filocamo, Mirella
AU - Vlahovicek, Kristian
AU - Dardis, Andrea
AU - Lualdi, Susanna
AU - Corsolini, Fabio
AU - Bembi, Bruno
AU - Pittis, Maria Gabriela
PY - 2005/9
Y1 - 2005/9
N2 - 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.
AB - 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.
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M3 - Article
C2 - 16088929
AN - SCOPUS:33746752726
VL - 26
SP - 282
JO - Human Mutation
JF - Human Mutation
SN - 1059-7794
IS - 3
ER -