Montalvo Anna Lisa E, Filocamo Mirella, Vlahovicek Kristian, Dardis Andrea, Lualdi Susanna, Corsolini Fabio, Bembi Bruno, Pittis Maria Gabriela
Unità di Malattie Metaboliche, IRCCS Burlo Garofolo, Trieste, Italy.
Hum Mutat. 2005 Sep;26(3):282. doi: 10.1002/humu.9363.
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.
泰-萨克斯病（TSD）是一种由己糖胺酶A缺乏引起的隐性遗传疾病。我们报告了对31名意大利患者进行的分子特征分析，其中22例为婴儿型急性TSD，9例为亚急性青少年型，生化分类为B1变异型。在鉴定出的29个不同等位基因中，14个是由15个新突变引起的，其中2个在一个新的复合等位基因上呈顺式排列。这些新等位基因导致了4个移码突变、3个提前终止密码子、3个氨基酸改变、2个氨基酸缺失和2个剪接改变。如先前报道，c.533G>A（p.R178H）突变在所有晚发型TSD形式（B1变异型）患者中以纯合子或复合杂合子形式存在；通过与婴儿型TSD中发现的等位基因频率进行比较，讨论了该组中的等位基因频率。
