Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …

Due to the high genetic heterogeneity of hearing loss (HL), current clinical testing includes
sequencing large numbers of genes, which often yields a significant number of novel …

Hereditary hearing loss is both clinically and genetically very heterogeneous. Despite the
large number of genes that have been associated with the condition, many cases remain …

Newborn screening (NBS) was established as a public health program in the 1960s and is
crucial for facilitating detection of certain medical conditions in which early intervention can …

Decreased presence or activity of human SLC26A4 at the plasma membrane is a common
cause of hearing loss. SLC26A4 (Pendrin) is necessary for normal reabsorption of …

Purpose Proper interpretation of genomic variants is critical to successful medical decision
making based on genetic testing results. A fundamental prerequisite to accurate variant …

Hearing loss is the most common sensorial deficit in humans and one of the most common
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …

Consanguineous Pakistani pedigrees segregating deafness have contributed decisively to
the discovery of 31 of the 68 genes associated with nonsyndromic autosomal recessive …

Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear
malformations in hearing loss patients including Pendred syndrome. While biallelic …

Enlargement of the endolymphatic sac, duct, and vestibular aqueduct (EVA) is the most
common inner ear malformation identified in patients with sensorineural hearing loss. EVA is …