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

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 …

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

Objective To investigate the relations of monoallelic (M1), biallelic (M2), or the absence of
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …

Objective Enlarged vestibular aqueduct (EVA) is the most common inner ear malformation.
While a strong correlative relationship between EVA and hearing loss is well established, its …

The prevalence of UHL is estimated at 1 per 1000 children at birth, 1 increasing with age
due to delayed-onset congenital hearing loss and acquired hearing loss. Because the …

Objectives/Hypothesis To characterize the severity and natural history of hearing loss, and
the prevalence of having a cochlear implant in a maturing cohort of individuals with enlarged …

Background Enlargement of the vestibular aqueduct (EVA) is the most common radiological
abnormality in children with sensorineural hearing loss. Mutations in coding regions and …

Importance Imaging used to determine the cause of unilateral sensorineural hearing loss
(USNHL) in children is often justified by the high likelihood of detecting abnormalities, which …

Abstract Human pendrin (SLC26A4) is an anion transporter mostly expressed in the inner
ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic …