According to the Human Gene Mutation Database (HGMD, http://www.hgmd.cf.ac.uk/ac/index.php), more than 182 disease-causing mutations of the HEXA gene have been identified in patients affected by Tay-Sachs disease (MIM #272800), including missense/nonsense, 96; splicing, 33; small deletions, 28; small insertions, 8; small indels, 3; and gross deletions, 1 (7.6 kb incl. This evidence concerns the gene HEXA and Tay-Sachs disease.