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

Human mutation - 1 Sept 2005

Montalvo Anna Lisa E, Filocamo Mirella, Vlahovicek Kristian, Dardis Andrea, Lualdi Susanna, Corsolini Fabio, Bembi Bruno, Pittis Maria Gabriela

Abstract excerpt

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...

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Identifiers

PMID: 16088929
DOI: 10.1002/humu.9363

Genes

HEXA

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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