Population-Based Study of New Mutations Causing Sandhoff Disease in Argentina
View/ Open
Date
2013Author
Mugnaini, Julia
Dodelson de Kremer, Raquel
Oller Ramírez, Ana María
Azar, Nydia Beatriz
Dardis, Andrea
Becerra, Adriana
Zampieri, S.
Guelbert, Norberto
Metadata
Show full item recordAbstract
Sandhoff Disease (SD) is a lysosomal storage disorder caused by mutations in the HEXB gene. A high incidence
of SD has been described in an Argentine region called ‘‘Valle de Traslasierra.’’ Mutations c.445þ1G>A and p.S261Cfs12X
were found in 98.7% and 1.3% of mutant alleles, respectively. In previous population-based studies, the carrier frequency has
been estimated to be 1 in 16 to 29, all heterozygous with c.445þ1G>A. Recently, we detected new mutations in 5 Argentinian patients: c.1082þ5G>A, c.1242þ1G>A, c.1451G>A (p.Gly484Glu), c.1597C>T (p.Arg533Cys) and c.1601G>A (p.Cys534Tyr).