Homozygosity was seen in the OTOF gene in family number 909 (Table 2b), in the TMPRSS3 gene in family number 910 (Table 2c), and in the OTOF, TMPRSS3, and TMHS genes in family number 917 (Table 2d, 2e, 2f).
In our study, segregation was found in the TMPRSS3 gene in two families.
37) in the Turkish population, families with consanguineous marriage and with at least three children with hearing loss were screened and mutations in the TMPRSS3 gene were found with a frequency of 1.
Informative homozygosity was found for the OTOF gene in one family, for the TMPRSS3 gene in one family, and for all three genes including the TMHS, OTOF, and TMPRSS3 genes in one family.
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
2 MY015 Prelingual Stable DFNB4/7q31 PDS Prelingual Stable DFNB5/14g12 -- Prelingual Stable DFNB6/3p14-21 TMIE Prelingual Stable DFNB7/9q13-21 TMC1 Prelingual Stable DFNB8/21q22 TMPRSS3
Postlingual/2nd Progressive DFNB9/2p22-23 OTOF Prelingual Stable DFNB10/21q22 -- Prelingual Stable DFNB11/9g13-21 -- Prelingual Stable DFNB12/10q21-22 CDH23 Prelingual Stable DFNB13/7q34-36 -- Prelingual Progressive DFNB14/7q31 -- -- -- DFNB15/3q21-25,19q13 Prelingual Stable DFNB16/15q21-22 STRC Prelingual Stable DFNB17/7q31 -- Prelingual Stable DFNB18/11p14-15 USH1c Prelingual Stable DFNB19/18q11 -- Prelingual Stable DFNB20/11q25 -- -- -- DFN821/11q TECTA -- -- DFNB22/Reserved OTOA -- -- DFNB23/Reserved DFNB24/Reserved DFNB25/Reserved Adapted from Van Camp & Smith (2003).