TY - JOUR
T1 - Tay-Sachs disease and HEXA mutations among Moroccan Jews
AU - Kaufman, Michal
AU - Grinshpun-Cohen, Julia
AU - Karpati, Mazal
AU - Peleg, Lea
AU - Goldman, Boleslaw
AU - Akstein, Edna
AU - Adam, Avinoam
AU - Navon, Ruth
PY - 1997
Y1 - 1997
N2 - 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 obligate TSD carriers, we found four additional mutations. One of them is a novel, IVSS-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: ΔF*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.
AB - 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 obligate TSD carriers, we found four additional mutations. One of them is a novel, IVSS-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: ΔF*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.
KW - G(M2) gangliosidosis
KW - HEXA gene
KW - Moroccan Jews
KW - Tay-Sach disease
KW - β- hexosaminidase A
UR - http://www.scopus.com/inward/record.url?scp=0030765489&partnerID=8YFLogxK
U2 - 10.1002/(SICI)1098-1004(1997)10:4<295::AID-HUMU5>3.0.CO;2-G
DO - 10.1002/(SICI)1098-1004(1997)10:4<295::AID-HUMU5>3.0.CO;2-G
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C2 - 9338583
AN - SCOPUS:0030765489
SN - 1059-7794
VL - 10
SP - 295
EP - 300
JO - Human Mutation
JF - Human Mutation
IS - 4
ER -