Autosomal dominant non-syndromic hearing loss (HL) typically occurs when only one
dominant allele within the disease gene is sufficient to express the phenotype. Therefore …

Structural variation includes a change in copy number, orientation, or location of a part of the
genome. Copy number variants (CNVs) are a common cause of genetic hearing loss …

POU4F3, a member of the POU family of transcription factors, commonly causes autosomal
dominant deafness. Exome sequencing was used to identify four novel variants in POU4F3 …

Introduction Hair cells (HCs) of the cochlea are responsible for sound transduction and
hearing perception in mammals. Genetic mutations in the transcription factor Pou4f3 cause …

A variant in a transcription factor gene, POU4F3, is responsible for autosomal dominant
nonsyndromic hereditary hearing loss, DFNA15. To date, 14 variants, including a whole …

Sensorineural hearing loss is one of the most common inherited sensory disorders.
Functional classifications of deafness genes have shed light on genotype-and mechanism …

Hearing impairment is one of the most widespread inheritable sensory disorder affecting at
least 1 in every 1000 born. About two‐third of hereditary hearing loss (HHL) disorders are …

Background Hereditary hearing loss is genetically heterogeneous, and hundreds of
mutations in than 60 genes are involved in this disease. Therefore, it is difficult to identify the …

Latin America comprises all countries from South and Central America, in addition to
Mexico. It is characterized by a complex mosaic of regions with heterogeneous genetic …

Autosomal dominant non-syndromic hearing loss (ADNSHL) is genetically heterogeneous
with more than 35 genes identified to date. Using a massively parallel sequencing panel …