<i>STRC</i> Gene Mutations, Mainly Large Deletions, are a Very Important Cause of Early-Onset Hereditary Hearing Loss in the Czech Population

Simona Poisson Marková, Dana Šafka Brožková, Petra Laššuthová, Anna Uhrová Mészárosová, Marcela Krůtová, Jana Neupauerová, Dagmar Ras̆ková, Marie Trková, David Staněk, Pavel Seeman

Genetic Testing and Molecular Biomarkers · 2018 · 25 citations · 12 references

Abstract

Our results provide strong evidence that STRC gene mutations are an important cause of NSHL-AR in Czech HL patients and are probably the second most common cause of DFNB. Large CNVs were more frequent than point mutations and it is reasonable to test them first by a QF-PCR method-a simple, accessible, and efficient tool for STRC CNV detection, which can be combined by MLPA.

References

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