Estudio genético de hipoacusia en familias de Argentina
DOI:
https://doi.org/10.31053/1853.0605.v61.n1.32593Keywords:
Hipoacusia, GJ32, GJB6, DFB1, DFNB9, Q829X, Conexina 26, Otoferlina, Conexina 30, OTOFAbstract
Rccenl advances in molecular genetics as wcll as iniproved stratcgies for ihe prevention and control of non-syndromic hearing loss (NSHL) have contributed to the rising importance of their inherited causes. In this studv we report 32 families from Argentine with one (sporadic) or i'nore (faniilial) individuals affectcd. Al] the families were initially screcned for mutations in three autosomal nuclear genes and one mutation in mitochondrial DNA. These genes have been found in a great number of familial or sporaclic cases of congenital dcafness in Caucasians. The mutant allele 35 del G of connexin 26 (GJB2, locus DFN131 on 13q12) was preseni in three families. Wc have irivestigated the gene encocling otoferlin (OTOF, locus DFNB9 on 2p22-1)23) and we found the Q829X mutatiori in helcrocigositv in iwo families. Wc have also identified in heterocigosity the 342-kb dcletion of connexin 30 (GJB6, locus DFN131 on 13q12) in une family. Oil thc other hand. we have not found any paticnt with niitochonclrial niutation. Since the screening for other inutations is very expensive, our main goal is to irivestigate the most frequent mutations in each separate gene in the argentine population and to develop simple and specific tests for each frequent rnutations.
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