Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss
K Honda, AJ Griffith - Human genetics, 2022 - Springer
Mutations of coding regions and splice sites of SLC26A4 cause Pendred syndrome and
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
nonsyndromic recessive hearing loss DFNB4. SLC26A4 encodes pendrin, a …
Genetic determinants of non-syndromic enlarged vestibular aqueduct: a review
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 …
birth defects. In developed countries, at least 60% of cases of hearing loss are of genetic …
ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs
MT DiStefano, SE Hemphill, AM Oza, RK Siegert… - Genetics in …, 2019 - nature.com
Purpose Proper interpretation of genomic variants is critical to successful medical decision
making based on genetic testing results. A fundamental prerequisite to accurate variant …
making based on genetic testing results. A fundamental prerequisite to accurate variant …
Association of SLC26A4 mutations, morphology, and hearing in pendred syndrome and NSEVA
K Mey, AA Muhamad, L Tranebjærg… - The …, 2019 - Wiley Online Library
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 …
mutations (M0) in SLC26A4 to inner ear morphology and hearing levels in individuals with …
Vestibular dysfunction in patients with enlarged vestibular aqueduct
CK Zalewski, WW Chien, KA King… - … –Head and Neck …, 2015 - journals.sagepub.com
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 …
While a strong correlative relationship between EVA and hearing loss is well established, its …
Management of children with unilateral hearing loss
JEC Lieu - Otolaryngologic Clinics of North America, 2015 - oto.theclinics.com
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 …
due to delayed-onset congenital hearing loss and acquired hearing loss. Because the …
Hearing loss associated with enlarged vestibular aqueduct and zero or one mutant allele of SLC26A4
J Rose, JA Muskett, KA King, CK Zalewski… - The …, 2017 - Wiley Online Library
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 …
the prevalence of having a cochlear implant in a maturing cohort of individuals with enlarged …
A common SLC26A4-linked haplotype underlying non-syndromic hearing loss with enlargement of the vestibular aqueduct
P Chattaraj, T Munjal, K Honda, ND Rendtorff… - Journal of medical …, 2017 - jmg.bmj.com
Background Enlargement of the vestibular aqueduct (EVA) is the most common radiological
abnormality in children with sensorineural hearing loss. Mutations in coding regions and …
abnormality in children with sensorineural hearing loss. Mutations in coding regions and …
Assessment of the clinical benefit of imaging in children with unilateral sensorineural hearing loss: a systematic review and meta-analysis
FG Ropers, ENB Pham, SG Kant… - … –Head & Neck …, 2019 - jamanetwork.com
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 …
(USNHL) in children is often justified by the high likelihood of detecting abnormalities, which …
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain
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 …
ear, thyroid and kidney. SLC26A4 gene mutations are associated with a broad phenotypic …