Tay-Sachs disease and HEXA mutations among Moroccan Jews

✍ Scribed by Michal Kaufman; Julia Grinshpun-Cohen; Mazal Karpati; Lea Peleg; Boleslaw Goldman; Edna Akstein; Avinoam Adam; Ruth Navon

• Book ID: 101264528
• Publisher: John Wiley and Sons
• Year: 1997
• Tongue: English
• Weight: 201 KB
• Volume: 10
• Category: Article
• ISSN: 1059-7794
• DOI: 10.1002/(sici)1098-1004(1997)10:4<295::aid-humu5>3.0.co;2-g

✦ Synopsis

Communicated by Charles R. Scriver

Moroccan Jewry (N>750,000) is the only non-Ashkenazi Jewish community in which Tay-Sachs disease (TSD) is not extremely rare. Previous studies among Moroccan Jewish TSD families identified three HEXA mutations. In this study, extended to enzyme-defined and new obilgate TSD carriers, we found four additional mutations. One of them is a novel, IVS5-2(A®G) substitution, resulting in exon skipping, and it was found only among enzyme-defined carriers. The seven HEXA identified mutations among Moroccan Jews are: DF 304/305 , R170Q, IVS-2(A®G), Y180X, E482K, 1278+TATC, and IVS12+1(G®C). Their respective distribution among 51 unrelated enzyme-defined and obligate carriers is 22:19:6:1:1:1:1. The mutation(s) remain unknown in only three enzyme-defined carriers. Five of the seven Moroccan mutations, including the three most common ones, were not found among Ashkenazi Jews. Compared with the much larger and relatively homogeneous Ashkenazi population, the finding among Moroccan Jews probably reflects their much longer history. Hum Mutat 10:295-300, 1997.