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Tay–Sachs disease in Brazilian patients: Prevalence of the IVS7+1g>c mutation
Author(s) -
Rozenberg R.,
Martins A. M.,
Micheletti C.,
Mustacchi Z.,
Pereira L. V.
Publication year - 2004
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1023/b:boli.0000016680.42018.a1
Subject(s) - human genetics , medicine , mutation , virology , genetics , pediatrics , biology , gene
Summary: Seven Brazilian Tay–Sachs disease cases were screened for the most frequent causative mutations. They all presented at least one copy of the IVS7+1g>c mutation. Three patients were homozygotes, three were compound heterozygotes, and in one case only the mother was tested and shown to carry the IVS7+1g>c mutation. In the second allele the compound heterozygotes presented: R178H (the DN allele), InsTATC1278 and an unidentified mutation. The IVS7 + 1g>c mutation has already been described in three Portuguese patients. In this study, all families were unaware of any Portuguese ancestry. Since Brazil was a Portuguese colony, the mutation most probably came from ancient common ancestry. The initial molecular analysis of Tay–Sachs disease patients in Brazil indicated a prevalence of the IVS7+1g>c mutation, possibly as a result of genetic drift.