… Three major deafness-related genes (GJB2, SLC26A4 (PDS), … second most frequent cause
of non-syndromic hearing loss. … diagnosis of enlarged vestibular aqueduct (EVA) or inner ear …

… (ie, sequencing of SLC26A4 in patients with enlarged vestibular aqueduct). A few studies …
2A, we find USH2A and ADGRV1, whose mutations are known to cause Usher syndrome (…

… of an enlarged vestibular aqueduct (EVA), leading to hearing … non-syndromic hearing loss
in the Saudi Arabian population. … mutation causing congenital nonsyndromic hearing loss in a …

… Hereditary deafness can be caused by mutations in a single … have a genetic cause (eg,
enlarged vestibular aqueduct [EVA] … WFS1 X X The AD version is non-syndromic. The recessive …

… and X-linked and also due to mitochondrial mutations. In the … In PDS and nonsyndromic
deafness, about 150 SLC26A4 … the inner ear, which includes enlargement of vestibular aqueduct …

… mutations of the SLC26A4 gene. They defined that degree of the hearing loss changes
from mild to profound in patients with non-syndromic EVA. Conversely, severe to profound …

… inner ear malformation is enlarged vestibular aqueduct (EVA)… patients with CHARGE syndrome
caused by mutations in the CHD7 … in the CHD7 gene are associated with a milder clinical …

… mutant SLC26A4 phenotype is characterized by inner ear … an autosomal recessive trait
caused by biallelic mutations of SLC26A4 (… Large vestibular aqueduct syndrome is not actually a …

… clarify the mutation spectrum of syndromic hearing loss patients … hearing loss, goiter, and
enlarged vestibular aqueduct 27 . … included in the non-syndromic hearing loss panel reported in …

… mutations in the Pendred gene), baseline hearing thresholds, and radiological morphology
of the vestibular aqueduct. … cohort, due to the limited number of patients in the overall dataset. …