|Author||Hassan, Mohamed Ahamed ♦ Shah, Aftab Ali ♦ Szmida, Elzbieta ♦ Smigiel, Robert ♦ Sasiadek, Maria M. ♦ Pfister, Markus ♦ Blin, Nikolaus ♦ Bress, Andreas|
|Publisher||Springer Berlin Heidelberg|
|Subject Domain (in DDC)||Natural sciences & mathematics ♦ Life sciences; biology|
|Subject Keyword||Hereditary hearing disability ♦ Exonic mutation ♦ Missense mutation ♦ Transmembrane protein ♦ Life Sciences ♦ Animal Genetics and Genomics ♦ Human Genetics ♦ Microbial Genetics and Genomics ♦ Plant Genetics & Genomics|
|Abstract||After excluding frequent mutations in common genes like GJB2, SLC26A4 and MT-RNR1 by straightforward Sanger sequencing in about 20 Polish families with hearing impairment, new and possibly pathogenic mutations were searched for by next-generation sequencing (NGS) screening using a specialised panel including more than 80 genes connected with hearing disorders. Due to high rates of false-positive pathogen predictions for newly discovered single-nucleotide polymorphisms (SNPs), different prediction models were combined to enhance the prediction power. In one family with a record of over four generations, II,3 and II,4 were suspected of hearing impairment without medical records. A male person (III,2) displayed hearing loss of 40 dB hearing level (HL) and his two sons, IV,1 and IV,2, were both affected; one with 90 dB HL and the other with 40 dB HL. Here, one heterozygous, non-synonymous variant was detected, with the SNP causing an amino acid substitution in TMC1 (transmembrane channel-like 1), a gene reported with many mutations in DFNA36 and DFNB7/11 (OMIM #606705 and #600974, respectively). Until now, the substitution p.S320R has not been described in any database. Instead of the significance of this mutation by bioinformatics tools, we confirmed the genotype–phenotype co-segregation in family members. The involvement of TMC1 in hereditary hearing impairment has not been observed in the Polish population so far.|
|Age Range||18 to 22 years ♦ above 22 year|
|Education Level||UG and PG|
|Learning Resource Type||Article|
|Publisher Place||Berlin, Heidelberg|
|Journal||Journal of Applied Genetics|
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