A founder mutation of TMPRSS3 associated with nonsyndromic sensorineural congenital deafness in the Palestinian population

الملخص EN

Mutations in TMPRSS3 (OMIM 605511), which encodes a transmembrane serine protease, are responsible for non-syndromic recessive deafness in Pakistani, Palestinian, and Tunisian families.

Here we report a novel founder TMPRSS3 mutation in the Palestinian population, 988delA, which leads to a stop at codon 357 and hence abrogates the serine protease activity of the TMPRSS3 protein.

Homozygosity for 988delA was associated with severe to profound congenital sensorineural deafness in four consanguineous Palestinian families.

In the Palestinian population, 1% of hearing individuals are heterozygous carriers of this mutation.