Autosomal Recessive 4 Deafness

A hereditary autosomal recessive disorder characterized by the onset of SENSORINEURAL HEARING LOSS or MIXED HEARING LOSS typically in infancy. It is associated with TEMPORAL BONE abnormalities, especially an enlarged vestibular aqueduct, but it can also include the more severe Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2.5 turns is replaced by a hypoplastic coil of 1.5 turns. Mutations have been identified in the SLC26A4 gene, and more rarely the FOXI1 gene for enlarged vestibular aqueduct. OMIM: 600791

Also Known As:

Networked: 72 relevant articles (4 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Pendred syndrome
2.	Ototoxicity
3.	Hearing Loss (Hearing Impairment)
4.	Pathologic Constriction (Stenosis)
5.	Nonsyndromic Deafness

Experts

1.	Dai, Pu: 3 articles (11/2008 - 07/2006)
2.	Adunka, Oliver F: 2 articles (01/2021 - 07/2020)
3.	Brown, Kevin D: 2 articles (01/2021 - 01/2019)
4.	Hiss, Meghan M: 2 articles (01/2021 - 07/2020)
5.	Mattingly, Jameson K: 2 articles (01/2021 - 07/2020)
6.	Park, Lisa R: 2 articles (01/2021 - 01/2019)
7.	Riggs, William J: 2 articles (01/2021 - 07/2020)
8.	Zhu, Qing-Wen: 2 articles (01/2021 - 07/2006)
9.	Teagle, Holly F B: 2 articles (01/2019 - 12/2012)
10.	Gupta, Amit: 2 articles (11/2018 - 02/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Autosomal Recessive 4 Deafness:

1.	SteroidsIBA 04/01/2011 - "Thus, as enlarged vestibular aqueduct syndrome and superior semicircular canal deficiency syndrome exhibit LTABGs due to the third mobile inner ear window, endolymphatic sac surgery with adequate endolymphatic sac decompression and exposure to high doses of steroids, might induce LTABGs and the beneficial results of endolymphatic sac surgery." 11/01/2008 - "Steroid treatment of hearing loss in enlarged vestibular aqueduct anomaly."
2.	AminoglycosidesIBA 01/01/2021 - "The limited genetic screening helped identify 31 infants who passed newborn hearing screening, reducing time for diagnosis and intervention; 425 infants with normal hearing with pathogenic SLC26A4 variation and 92 infants with MT-RNR1 variation were at risk for enlarged vestibular aqueduct and aminoglycoside-induced ototoxicity respectively, indicating early aversive or preventive management. "
3.	dirhodium tetraacetate (DRTA)IBA 05/01/2002 - "We performed a neuroradiological study in 3 consecutive unrelated pediatric patients affected with sporadic dRTA and progressive SNHL that disclosed an enlarged vestibular aqueduct (VA) and endolymphatic sac (ES) in each. " 11/01/2009 - "Enlarged vestibular aqueduct (EVA) was described in patients with recessive dRTA and SNHL, and recently, this abnormality has been associated with mutations in the ATP6V1B1 gene. " 10/01/2017 - "Because MRL-Atp6v1b1vxt/vtx mice do not recapitulate the metabolic acidosis of dRTA patients, they provide a new genetic model for nonsyndromic deafness with enlarged vestibular aqueduct (EVA; OMIM #600791)."
4.	Biomarkers (Surrogate Marker)IBA 07/01/2023 - "We determine which biomarkers can be measured in a reproducible manner, facilitating further clinical prediction studies in enlarged vestibular aqueduct hearing loss. " 07/01/2023 - "Researchers can confidently utilise these specific biomarkers when modelling progressive hearing loss associated with enlarged vestibular aqueduct." 07/01/2023 - "Can MRI biomarkers for hearing loss in enlarged vestibular aqueduct be measured reproducibly?"
5.	Prostaglandins DIBA 01/01/2010 - "In the present study, we reported the development and application of PGD protocols to address enlarged vestibular aqueduct (EVA), which is a common type of hereditary hearing impairment associated with mutations in the SLC26A4 gene. "
6.	ElectrolytesIBA 11/01/2005 - "This study also underscores the possible role of hydro-electrolyte and acid-base endolymphatic fluid disorders in the pathogenesis of enlarged vestibular aqueduct syndrome."
7.	AcidsIBA 11/01/2005 - "This study also underscores the possible role of hydro-electrolyte and acid-base endolymphatic fluid disorders in the pathogenesis of enlarged vestibular aqueduct syndrome."
8.	Proteins (Proteins, Gene)FDA Link 10/01/2020 - "numerous researches on the pathological mechanism of Enlarged Vestibular Aqueduct (EVA) syndrome mainly focuses on the genetic characteristics of SLC26A4 gene and the function of its encoding protein, Pendrin. " 12/01/2006 - "This is the first published case in which a high protein concentration in the cochlea of a patient with an enlarged vestibular aqueduct was detected by 3D FLAIR MRI. " 01/01/2017 - "Mutations in the SLC26A4 gene, which encodes the pendrin protein, are responsible for both Pendred syndrome and for allelic disorder (nonsyndromic enlarged vestibular aqueduct). " 04/01/2008 - "To identify mutations in the SLC26A4 gene in individuals with nonsyndromic hearing loss and enlarged vestibular aqueduct, to design a predicted model of the pendrin protein, and to characterize novel mutations by means of localization in mammalian cells and effect of the mutation on the predicted model. "
9.	AnionsIBA 01/10/2018 - "The prevalence and spectrum of sequence alterations in the SLC26A4 gene, which codes for the anion exchanger pendrin, are population-specific and account for at least 50% of cases of non-syndromic hearing loss associated with an enlarged vestibular aqueduct. " 03/01/2013 - "Recessive mutations in the SLC26A4 gene encoding pendrin, an anion transporter, are responsible for non-syndromic hearing loss associated with an enlarged vestibular aqueduct (EVA) and Pendred syndrome, which causes early hearing loss and affects the thyroid gland. " 06/01/2007 - "Although recessive mutations in the anion transporter gene SLC26A4 are known to be responsible for Pendred syndrome (PS) and nonsyndromic hearing loss associated with enlarged vestibular aqueduct (EVA), also known as "DFNB4," a large percentage of patients with this phenotype lack mutations in the SLC26A4 coding region in one or both alleles. "
10.	ConnexinsIBA 02/01/2006 - "Congenital CMV infections and connexin mutations are the two major causes of deafness at birth, while causes for enlarged vestibular aqueduct along with congenital CMV infection are the major causes of pre-lingual hearing loss that is not expressed at birth. " 03/01/2010 - "Other less common etiology of hearing loss included TORCH (toxoplasmosis, other infections, rubella, cytomegalovirus, herpes simplex virus) (8.3%), connexin mutation (5.8%), and enlarged vestibular aqueduct (6.5%). "

Therapies and Procedures

1.	Cochlear Implants (Cochlear Implant) 05/01/2023 - "The inclusion criteria were: English language, cochlear implant, age at implantation available, age <18 years, PS, Mondini malformation, and enlarged vestibular aqueduct. " 01/01/2023 - "Programming Levels and Speech Perception in Pediatric Cochlear Implant Recipients With Enlarged Vestibular Aqueduct or GJB2 Mutation." 01/01/2021 - "Enlarged Vestibular Aqueduct: Hearing Progression and Cochlear Implant Candidacy in Pediatric Patients." 03/05/2020 - "Auditory Detection Thresholds and Cochlear Resistivity Differ Between Pediatric Cochlear Implant Listeners With Enlarged Vestibular Aqueduct and Those With Connexin-26 Mutations." 09/01/2019 - "While preparing the patient for cochlear implant whenever you come across enlarged vestibular aqueduct via HRCT temporal bone and MRI of cochlea, be prepared for CSF gusher while doing the cochleostomy. "
2.	Cochlear Implantation 04/01/2012 - "Cochlear implantation is a safe and effective treatment in patients with enlarged vestibular aqueduct." 05/01/2023 - "Cochlear Implantation in Children with Enlarged Vestibular Aqueduct: A Systematic Review of Surgical Implications and Outcomes." 01/19/2023 - "We retrospectively recruited 21 children (42 ears) diagnosed with Mondini dysplasia (MD) plus enlarged vestibular aqueduct (EVA) from 2009 to 2021 and who underwent cochlear implantation (CI). " 12/01/2022 - "Cochlear implantation in adults and pediatrics with enlarged vestibular aqueduct: a systematic review on the surgical findings and patients' performance." 01/01/2022 - "Enlarged Vestibular Aqueduct: Disease Characterization and Exploration of Potential Prognostic Factors for Cochlear Implantation."
3.	Decompression 04/01/2011 - "Thus, as enlarged vestibular aqueduct syndrome and superior semicircular canal deficiency syndrome exhibit LTABGs due to the third mobile inner ear window, endolymphatic sac surgery with adequate endolymphatic sac decompression and exposure to high doses of steroids, might induce LTABGs and the beneficial results of endolymphatic sac surgery."
4.	Electrodes (Electrode) 01/01/2016 - "Intervention & Technique: Postoperative imaging showed correct intracochlear placement of the electrode as well as an incidental enlarged vestibular aqueduct. " 10/07/2022 - "Is cochlear implant (CI) electrode selection for cochleae with an enlarged vestibular aqueduct (EVA) the same as that for patent cochleae with a normal inner ear structure? " 01/01/2022 - "Early Elevation and Normalization of Electrode Impedance in Patients With Enlarged Vestibular Aqueduct Undergoing Cochlear Implantation." 01/01/2019 - "Cochlear implantation MAIN OUTCOME MEASURES:: Multiple logistic regression evaluating the influence of variables on change in LFPTA including preoperative low-frequency hearing, lateral wall or perimodiolar electrode, progressive vs stable hearing, side, time from surgery, and the presence or the absence of enlarged vestibular aqueduct. " 01/01/2021 - "Five pediatric subjects undergoing CI surgery through a round window (RW) approach with a perimodiolar electrode array, who were diagnosed with either auditory neuropathy spectrum disorder or enlarged vestibular aqueduct. "
5.	Extracorporeal Membrane Oxygenation 10/07/2017 - "Mutations in SLC26A4, mitochondrial, GJB2 and other genes, enlarged vestibular aqueduct, congenital cytomegalovirus infection, extracorporeal membrane oxygenation, and auditory neuropathy et al were more commonly reported risk factors. "