Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

doi:10.1016/j.ijporl.2016.04.005

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Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

International journal of pediatric otorhinolaryngology - 1 Jul 2016

Marková Simona, Šafka Brožková Dana, Mészárosová Anna, Neupauerová Jana, Groh Daniel, Křečková Gabriela, Laššuthová Petra, Seeman Pavel

Abstract excerpt

OBJECTIVES: To evaluate the contribution of eight small NSHL-AR (non-syndromic deafness, autosomal recessive) genes to hereditary hearing loss in Czech patients. PATIENTS AND METHODS: Unrelated Czech patients, adults and children, diagnosed with pre-lingual hereditary hearing loss with at least one similarly affected deaf sibling and with previously excluded mutations in the GJB2 gene were investigated by Sanger...

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Mutations in eight small DFNB genes are not a frequent cause of non-syndromic hereditary hearing loss in Czech patients.

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