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 …

Abstract Background Enlarged Vestibular Aqueduct (EVA) is one of the most common
congenital malformations associated with sensorineural or mixed hearing loss. The …

Objectives/Hypothesis To investigate possible association of hearing loss and SLC26A4
mutations with the subgroups of enlarged vestibular aqueduct (EVA) morphology in …

Recessive mutations in SLC26A4 and in rarer cases double heterozygous mutations of
FOXI1/SLC26A4 and KCNJ10/SLC26A4 lead to hearing impairment associated with …

Background: Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an
autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many EVA …

Background Recessive mutations of coding regions and splice sites of the SLC26A4 gene
cause hearing loss with enlargement of the vestibular aqueduct (EVA). Some patients also …

Sensorineural hearing loss associated with enlargement of the vestibular aqueduct (EVA)
can be associated with mutations of the SLC26A4 gene. In western populations, less than …

Objectives Recessive mutations of SLC26A4 are the major cause of hearing impairment
associated with enlarged vestibular aqueduct (EVA). In a significant percentage of non …

It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness
characterized by congenital sensorineural hearing impairment and goitre (Pendred's …

Importance Approximately one-half of all subjects with unilateral or bilateral hearing loss
with enlargement of the vestibular aqueduct (EVA) will haveSLC26A4gene mutations. The …