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Year : 2022  |  Volume : 28  |  Issue : 1  |  Page : 6-17

An update on autosomal recessive hearing loss and loci involved in it

1 Cancer Research Center, Shahrekord University of Medical Sciences, Rahmatieh, Shahrekord, Iran
2 Department of Anatomical Sciences, Faculty of Medicine, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran
3 Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord, Iran

Date of Submission27-Jul-2021
Date of Decision05-Aug-2021
Date of Acceptance03-Jan-2022
Date of Web Publication25-Apr-2022

Correspondence Address:
Dr. Fatemeh Azadegan-Dehkordi
Cellular and Molecular Research Center, Basic Health Sciences Institute, Shahrekord University of Medical Sciences, Shahrekord
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/indianjotol.indianjotol_115_21

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Hearing plays an important role in human development and childhood speech learning for the proper functioning and development of people in society. Hearing loss (HL) is one of the most abnormal disabilities that affect the human senses. This disability may be due to genetic or environmental factors or both. Congenital HL is a disorder that occurs in at least 1 in 1000 births. At least 42 genetic loci are associated with syndromes, while more than 163 are associated with nonsyndromic HL (NSHL), and no specific gene therapy treatment has yet been proposed. Investigate the types of genes involved in regulating hair cell adhesion “and evaluate functions such as intracellular transport, the release of neurotransmitters, ion homeostasis, and hair cell cytoskeleton, and whether defects in them can impair cochlear and inner ear function.” Can help diagnose and treat the disease through various methods, including gene therapy. Given the complex internal and external structures of the ear, nervous system, and auditory mechanisms, it is not surprising that abnormalities in hundreds of different genes may lead to HL. In recent years, with the increasing number of studies on genes involved in congenital HL, counseling and treatment options with the help of gene therapy have increased. In this study, we aimed to describe genes and proteins and their functions in NSHL in the inner ear for screening and diagnostic programs of live birth and classify the genes involved in this model of deafness to open the door to gene therapy. It is on these genes. We hope to develop new molecular and gene therapies for autosomal recessive NSHL.

Keywords: Autosomal recessive, gene, gene therapy, hearing loss, loci, nonsyndromic

How to cite this article:
Koohiyan M, Hoseini M, Azadegan-Dehkordi F. An update on autosomal recessive hearing loss and loci involved in it. Indian J Otol 2022;28:6-17

How to cite this URL:
Koohiyan M, Hoseini M, Azadegan-Dehkordi F. An update on autosomal recessive hearing loss and loci involved in it. Indian J Otol [serial online] 2022 [cited 2023 Mar 29];28:6-17. Available from: https://www.indianjotol.org/text.asp?2022/28/1/6/343747

  Hearing Loss Top

The inheritance pattern of nonsyndromic hearing loss (NSHL) affects approximately 3 in every 1000 live births; autosomal recessive in 80% of cases, autosomal dominant in 20% of cases [Table 1],[1],[3] X linked in at least 1% of cases, and mitochondrial in at least 1% of cases [Table 2].[4],[5] Children born with HL encounter challenges in speech development, education, and language acquisition. These children often have an autosomal recessive pattern, while autosomal dominant pattern is usually postlingual. Genetic heterogeneity and intricate environmental factors have made it difficult to identify the genes causing HL.[6],[7], [107]
Table 1: Autosomal recessive nonsyndromic hearing loss genes

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Table 2: X-linked nonsyndromic hearing loss genes

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The purpose of this article is to provide an overall summary of autosomal recessive nonsyndromic hearing loss (ARNSHL) loci. We group the loci according to their functions of protein products in hearing physiology [Table 1]. Understanding the precise function of these loci can help us find their contribution and their role in hearing which broadens our view and opens up pathways to the treatment of HL.

  Genes and Proteins and Their Function in Nonsyndromic Hearing Loss Top

Proteins of the cytoskeleton

The DFNB28 protein can regulate actin cytoskeletal system, cell contraction, and cell proliferation and indirectly connect and fix the F-actin strand. It can also act as a binding protein for the rearrangement of the proteins needed for the formation and displacement of F-actin. In the Palestinian, Pakistani, and Indian populations, the mutation in the TRIOBP gene (DFNB28) is the cause of ethnic ARNSHL. The mutation in a new isoform TRIOBP is responsible for deafness in this locus.[8]

The DFNBF24 protein is most likely involved in binding actin fibers to the plasma membrane. The three proteins are ezrin, radixin, and moesin, which make up the ERM family, which play an important role in forming the membrane-associated cytoskeleton by linking actin filaments and adhesion proteins.[9]

The DFNB25 protein is effective in the production of actin filaments in creating sensory cell stereocilia. The mutation in the GRX CR1 gene (DFNB25), leading to the identification of progressive NSHL, has been reported in 2 out of 6 Pakistani, Dutch, and Iranian families.[10]

The DFNB53 protein plays a role in fibrillogenesis by controlling the lateral growth of collagen II fibrils (home page of HL). The DFNB76 protein acts as a component of the liner of nucleoskeleton and cytoskeleton complex and plays a role in the relationship between the nuclear lamina and the cytoskeleton. The DFNB76 mutation is associated with the early onset of progressive deafness and has been reported in two Jewish-Iraqi families.[11]

Adhesion proteins

The DFNB12 protein is a member of cadherin proteins that interfere with calcium-dependent cellular adhesion. They prefer to interact with their communication cells in a hemophilic state.[12] This protein is required to create and maintain the proper organization of the stereocilia bundle of hair cells in the cochlea and the vestibule during postnatal/fetal development. Mutations in the CDH23 gene (DFNB12) have been reported in the Caucasian population in ARNSHL patients.[13]

DFNB22 proteins probably act as an adhesion molecule. OTOA gene (DFNB22) encodes otoancorin protein that is expressed on the surface of the spiral limbus in the cochlea.[14] In a study, a mouse model targeting to inactivate otoancorin for DFNB22 showed damage to inner hair cells' sensibility as the main cause of HL.[15]

The DFNB23 protein is a calcium-dependent cell–adhesion protein that is essential for maintaining the normal retinal and cochlear functions. PCDH15 gene (DFNB23) encoded protocadherin 15; mutations of this gene may cause either combined hearing and vision impairment (type 1 Usher syndrome [USH1F]) or NSHL.[16]

The DFNB106 protein can play an important role in activating the exchange of guanine of SOS1 and may also play an important role in membrane ruffling and regeneration of the actin cytoskeleton. In the cochlea, it is needed to maintain stereocilia in the adult hair cells. The DFNB16 protein plays an important role in forming horizontal top connectors between the stereocilia of the outer hair cell. Mutations in stereocilin cause HL from severe mild to moderate. HL starts in early childhood and remains constant over time. HL may be severe to profound. However, vestibular abnormalities have not yet been recognized.[17]

Motor proteins

DFNB15, DFNB72, and DFNB95 proteins are required for postnatal maturation of hair bundles and prolonged survival of hair cells and spiral ganglion (home page of HL).

The DFNB30 protein plays an important role in the actin-based motor with a protein kinase activity. It also plays a role in visual and auditory senses (PubMed: 12032315), which is also needed for the normal development of cochlear hair bundle and hearing and is also effective in the early stages of morphogenesis of cochlear hair bundle (home page of HL).[18]

Scaffolding proteins

DFNB2, DFNB3, DFNB37, and DFNB61 proteins are myosins that are actin-based motor molecules with ATPase activity, which play an important role in differentiation, morphogenesis, and organization of cochlear hair cell bundles.[19] DFNB18 is an anchoring/scaffolding protein, an important part of the functional network formed by USH1C, USH1G, CDH23, and MYO7A, and as a mediator of mechanotransduction in the cochlear hair cells, it is also needed for normal development and maintenance of the cochlear hair cell bundles.[20] The DFNB18b protein is a glycoprotein that is special for cellular membranes of the inner ear. This protein may play a role in inhibiting otoconial membranes and cupulae in neonatal vestibule neuropigliain, also it can play an important role in mechanotransduction and organization processes and the stabilization of the fibrillar network composition in the cochlea tectorial membrane.[21] The DFNB21 protein is one of the important noncollagenic components of the tectorial membrane. The tectorial membrane is an extracellular matrix of the inner ear that covers the neuroepithelium of the cochlea and is associated with the stereocilia bundles of certain sensory hair cells.[22]

Ion homeostasis

The DFNB9 protein plays the role of a key sensor of calcium ions involved in the plasma fusion of Ca2 + synaptic vesicle–plasma membrane. It also plays a role in controlling neurotransmitter release at these output synapses.[23] DFNB48 is a calcium-binding protein that is essential for maintaining the photoreceptor cell and its function, as well as reducing the amount of calcium produced by ATP, which plays an important role in the formation of intracellular calcium homeostasis (maybe involved in the mechanotransduction process).[24]

DFNB103 protein plays an important role in normal hearing and the formation of stereocilia in the inner ear and normal development of the organ of Corti.[25] This protein can also be transferred into membranes and form poorly selective ion channels for transporting chloride ions. It can also have a role in regulating transepithelial ion secretion and absorption.[26]

Ion channels

DFNB4 protein is a sodium-independent transporter that carries chloride and iodide. SLC26A4 gene encodes pendrin protein in humans, which is a 110 kDa glycosylated protein, which functions as a membrane carrier protein that transports particles.[27] Different studies have detected at least 200 mutations in the SLC26A4 gene, which is known as the second most common cause of ARNSHL in the world.[6] DFNB60 protein is a sodium ion-dependent transporter that can transport one sodium ion with one molecule of carnitine. It can also carry organic cations such as tetraethyl ammonium without the involvement of sodium.[28]

DFNB66, 67 proteins play an important role in regulating transducer channel conductance and are necessary for fast channel adaptation.[29] The DFNB73 protein acts as a beta unit for CLCNKA and CLCNKB chloride channels. DFNB68 protein acts as a receptor for the lysosphingolipid sphingosine 1-phosphate.[30]

DFNB97 protein acts as a receptor tyrosine kinase that transduces signals from the extracellular matrix into the cytoplasm by binding to hepatocyte growth factor (HGF)/HGF ligand.[31] DFNB42 protein is a membrane receptor.[32]

Tight junctions

The DFNB1a, DFNB1b proteins act as a gap junction that consists of a packaged complex of pairs of transmembrane channels and connexons that transmit materials to low-molecular-weight from one cell to the neighboring cell. GJB2 mutations were detected in nine ARNSHL (20%) patients from Iran, which was similar to the results of the previous investigations in other regions of Iran.[7],[33] Different investigations had determined that the c. 35delG mutation is the most common in many ethnic groups; this mutation accounts for 85% of the mutations in the GJB2 gene.[34],[35],[36] DFNB29 protein plays an important role in the tight junction-specific elimination of the intercellular space by calcium-independent cell–adhesion activity. Mutations in the CLDN14 gene (DFNB29) have been reported in two Pakistani families.[37]

DFNB49 protein is involved in the formation of tricellular tight junctions and of epithelial barriers. A family from Qatar was reported to have a mutation in this locus with a hearing degree of moderate to severe.[38]

Trance membrane

DFNB63 protein is a trance membrane.[39] DFNB8, DFNB10 proteins are serine proteases that affect hearing. These proteins act as allowable factors for cochlear hair cell survival and activation at the beginning of hearing.[40] DFNB7, 11 (TMC1) proteins act as an ion channel required for the normal function of the cochlear hair cells. DFNB7 locus was first identified on chromosome 9q13–q21 in two relative Indian deaf families.[41] The TMC1 protein has six transmembrane domains; mutations in this gene are a relatively common cause of HL in Indian, Pakistani, Turkish, and Tunisian families.[41],[42],[43],[44]

Other proteins involved in hearing

DFNB31 protein is involved in the conservation and elongation of outer and inner hair cell stereocilia in the Corti into the inner ear. Four classes of DFNB31 mRNA variants were identified in mouse P5 vestibular organs as well as in adult mice retinas,[45] with similar DFNB31 mRNA variants reported in humans.[46] DFNB36 protein is a multifunctional actin-bundling protein. This protein has an important role in the control of the establishment, dynamics, dimension, and signaling capacities of the actin filament-rich microvilli in the chemosensory and mechanosensory cells; further, it has a role in the formation and maintenance of the inner ear hair cell stereocilia.[47]

DFNB39 protein is necessary for adult parenchymal hepatocyte cells; it may also be a hepatotropic factor and a growth factor for a large spectrum of tissues and cell types. It plays a major role in activating ligand for the receptor tyrosine kinase MET. Three mutations in the HGF gene (DFNB39) were identified in Pakistani and Indian families with ARNSHL.[48] DFNB74 protein stimulates the reduction of protein-free and bound methionine sulfoxide to methionine.[49] Isoform 2 of this protein is necessary for hearing, and it repairs oxidized methionine in proteins by methionine sulfoxide reduction of methionine sulfoxides by using the corresponding methionine, so it keeps the biological activity of proteins after oxidative damage in effect reactive oxygen.[50]

DFNB77 protein acts in the hearing and normal function of the hair cells in the inner ear. A few mutations were detected in the LOXHD1 gene (DFNB77) in nine families with hereditary HL. Different types of pathogenic variants are in this gene.[51] DFNB99 protein is necessary for hearing and normal inner ear hair cell function.[52]


The DFNB44 protein is involved in the formation of the cAMP signaling molecule in response to G protein signaling, as well as in increasing cellular calcium/calmodulin levels in reactions, and in regulatory activity in the central nervous system.[53] DFNB84 protein is a phosphatidylinositol phosphatase that is necessary for auditory function. This protein is involved in regulating phosphatidylinositol 4 and 5-bisphosphate (PIP2) levels in the basal region of the hair bundle.[54]

DFNB86 protein can be a GTPase-activating protein (GAP) for Rab family proteins.[55] DFNB88 protein can act as a GAP for ARL2 with lower-specific acting.[56] DFNB91 protein acts in the regulation of serine proteinases present in the brain or extravasated from the blood. It is in the inner ear and acts against leakage of lysosomal content during stress and damage, which causes cell death and sensorineural HL. SERPINB6 gene (DFNB91) was mapped to 6p25.2 and mutation in this gene caused ARNSHL in a related Turkish family with five affected members.[57] DFNB93 protein is necessary for sound coding at inner hair cell synapses, probably by inhibiting the inactivation of voltage-gated calcium channel type 1.3 (Cav1.3) in the inner hair cells.[58] DFNB94 protein has catalytic activity.[59]

DFNB100 protein acts as a bifunctional inositol kinase. It is involved in the production of protein compounds that act in regulating a diversity of cellular processes, including apoptosis, vesicle trafficking, cytoskeletal dynamics, exocytosis, insulin signaling, and neutrophil activation.[60]

DFNB104 protein acts as the inhibitor of the small GTPase RHOA. It is necessary for normal growth of the inner and outer hair cell stereocilia in the cochlea of the inner ear. It has an important role in conserving the structural formation of the basal domain of stereocilia. It plays a role in mechanosensory hair cell function and normal hearing (HL home page). DFNB59 protein is necessary for the activity of auditory pathway neurons.[61]

Tumor suppressor

DFNB32, DFNB105 proteins are dual-specificity protein phosphatase, dephosphorylating tyrosine-, serine-, and threonine-phosphorylated proteins. They are also a lipid phosphatase; the lipid phosphatase activity is critical for its tumor suppressor function.[62] These can be a negative regulator of insulin signaling and glucose metabolism in the adipose tissues.[63]

  Transcription Factors Top

DFNB35 protein is a transcription factor that binds a canonical ESRRB recognition (ERRE) sequence 5'TCAAGGTCA-3' localized on promoter and enhancer of target genes regulating their expression or their transcription activity.[64]

  Signaling Top

DFNB102 protein is a signaling adapter that controls various cellular protrusions by regulating actin cytoskeleton dynamics and architecture. Depending on its association with other signal transducers, it can control various processes.[65]

DFNB108 protein is an mRNA splicing factor that controls the organization of epithelial cell-specific isoforms. It regulates splicing and expression of genes involved in inner ear extension, auditory hair cell differentiation, and cell destiny determination in the cochlear epithelium (HL home page).[66]

  Interactions of Genes in Hearing Loss Top

It is interesting to know that there is always limited information about hearing genes. For example, mutations in specific genes may cause the severity of HL from mild to profound, congenital to late-onset progressive, even when the same mutation is involved in different individuals of a family, which may now affect various factors, including environmental factors (sound waves) or other specific genes (interacting genes), in the background of that responsible genes. These effects might show alternative pathways by creating a deviation in the treatment strategy, which raises exciting prospects.[67] These genes may include proteins that directly interact with the normal gene proteins or may include transcription factors that affect time or/and the rate of transcription of the mutated gene or may be involved in genes that regulate the degradation, restoration, and revolution of proteins or mRNA, or those that are involved in alternate pathways to obtain a product with the same purpose as the mutant gene product.

It is also interesting to know that a polymorphism variant may have resulted in decreased transcription or the faster degradation of harmful mutant protein, which in this case is a useful effect.

  Gene Therapy for Hereditary Hearing Loss Top

Human disease is modeled using organized animal models of various hereditary HLs, then by gene therapy and intervention. Gene therapy for hereditary HL has made great strides. The new findings show that gene therapy is effective in various animal models of inherited HL and hopes to revolutionize the clinical field in the future. Important genes studied for gene therapy consist of MsrB3,[68] Pou4f3,[69] Vglut3,[70] Tmc1,[71] Ush1c,[72] Kcnq4,[73] and Gjb2.[74] According to new studies, several potential genes have also been linked to HL, which is hoped to be used for gene therapy research in the future, such as Pls1,[75] Cldn9,[76] and Clarin-2.[68],[77] Recent findings have shown that DFNB9 viral gene therapy can be performed using a high loading AAV vector and greatly improve gene transfer problems compared to dual AAV methods. The big problem in the research is how to compare the neonatal model of a mouse with a human infant, given that the human infant grew well at birth while the mice matured after a few weeks of birth, so the intervention on newborn mice is similar to the intervention. It is in the embryonic stage of human. To better mimic postnatal genetic HL, we need to expand the time span of intervention. A study in a model of adult mice HL reported a Tmc1 mutation. In this study, microRNA was injected into the cochlea through the AAV vector and showed that RNAi-mediated gene silencing reduces hearing and increases the survival of internal hair cells.[78] With the identification of more genes related to hearing (almost all of which are involved in hereditary HL mentioned above) and the development of gene therapy technology, further research and success in the field of HL gene therapy are expected. Although the gene therapy strategy for the treatment of hearing disorders in humans is still limited and difficult, it is hoped that with the rapid progress of gene therapy in the treatment of diseases, safe treatment for HL will be created.

  Conclusion Top

In this review, the genes related to inherit ARNSHL were investigated and described. Due to the genetic heterogeneity, the interference of many backgrounds modulating factors and genes, the specific features and characteristics of many mutations, and the large size of genes involved in HL, and the molecular diagnosis and treatment designs are faced with many ambiguities and complexities. It should be noted that the functions of these genes are more understandable with more time and additional studies. Furthermore, more genes that cause HL will be discovered soon. Hopefully, with new studies and continuous examination, the function of the ear and nerves will be better understood, and we hope that new molecular and gene therapy methods for ARNSHL will be created. With this study and the coherent introduction of genes involved in hereditary deafness that may involve many people from generation to generation and cause problems in their lives and well-being, we will advance the solution of gene therapy for HL soon. We are optimistic about the problems of humanity, it will not happen unless with the constant cooperation of scientists around the world in various scientific fields, including ENT specialists, geneticists, immunologists, virologists, and surgeons.

Financial support and sponsorship


Conflicts of interest

There are no conflicts of interest.

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