Tp. Hutchin et al., Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction, EUR J HUM G, 9(5), 2001, pp. 385-387
Several mtDNA mutations have been reported in families with bath syndromic
and non-syndromic hearing loss. One such mutation is the heteroplasmic 7472
insC in the tRNA(Ser(UCN)) gene which has been found in six families, all f
rom Western Europe. However, it was not clear if this distribution was due
to a common founder effect or chance sampling of several unrelated families
, the 7472insC mutation having occurred multiple times. Haplotype analysis
of all six families supports the latter notion. This confirms the pathogeni
city of the 7472insC mutation and suggests it may exist in other population
s where it may prove to be a small but significant cause of hearing loss, p
articularly when neurological symptoms are also present.