Many different genes can cause the same type of hearing loss and the same genes can also be involved in different types of hearing loss. Two people with the same gene mutation may still have very different levels of hearing ability. If you think that you might have a genetic hearing loss, we recommend that you get your hearing checked by a hearing professional. Home Hearing loss Causes Genes. Are hearing problems hereditary? Some forms of hearing loss are genetic.
They are hereditary and caused by gene mutations. Gene mutations can cause hearing loss in several ways. Genes in ear cells affect our hearing Genes are chemical units found inside all cells of the human body. How good is your hearing? Get your hearing checked.
Usher's syndrome. Pendred syndrome. Age-related hearing loss. What does hearing loss sounds like. Syndromic Hearing Impairment More than genetic syndromes that include hearing loss have been described [ Toriello et al ]. Table 3. Causes of Syndromic Hearing Impairment. High penetrance ; extremely variable expressivity. HL secondary to bilateral vestibular schwannomas; a rare, potentially treatable type of deafness. Dystopia canthorum: lateral displacement of the inner canthus of the eye.
Nonsyndromic Hearing Impairment Nomenclature. Autosomal Dominant Nonsyndromic Hearing Impairment More than 25 genes have been associated with autosomal dominant nonsyndromic hearing loss. Table 4. Autosomal Recessive Nonsyndromic Hearing Impairment Large studies have underscored the extreme genetic heterogeneity of autosomal recessive nonsyndromic deafness.
Table 5. GIPC3 pathogenic variants are associated with audiogenic seizures. NARS2 pathogenic variants also cause Leigh syndrome. SLC26A4 pathogenic variants are also associated with Pendred syndrome. Table 6. Nonsyndromic Hearing Loss and Deafness, Mitochondrial The majority of pathogenic variants in mitochondrial genes cause a broad spectrum of maternally inherited multisystem disorders; however, variants in a subset of genes, mainly MT-RNR1 and MT-TS1 , cause nonsyndromic hearing loss by a currently unknown mechanism [ Fischel-Ghodsian ] see Table 7 and Nonsyndromic Hearing Loss and Deafness, Mitochondrial.
Table 7. Evaluation Strategy Recent guidelines have underscored the importance of genetic testing in the evaluation of patients with hearing loss. Figure 3. Family history. Effort should be made to obtain a three-generation family history with attention to other relatives with hearing loss and associated findings.
Documentation of relevant findings in relatives can be accomplished either through direct examination of those individuals or through review of their medical records, including audiograms, otologic examinations, and molecular genetic testing. Clinical examination. All persons with hearing loss of unknown cause should be evaluated for features associated with syndromic deafness see Table 3. Audiometric testing. Hearing status can be determined at any age see Diagnosing Deafness and Hearing Loss.
Individuals with progressive hearing loss should be evaluated for Alport syndrome , Pendred syndrome , and Stickler syndrome. In addition to genetic testing, temporal bone-computed tomography should be considered to evaluate for enlarged vestibular aqueduct.
Sudden or rapidly progressive hearing loss can be seen with temporal bone anomalies as in Pendred syndrome and BOR syndrome , neoplasms associated with NF2 , and immunologic-related deafness, as well as trauma, infections syphilis, Lyme disease , and metabolic, neurologic, or circulatory disturbances.
Genetic Counseling Genetic counseling is the process of providing individuals and families with information on the nature, mode s of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions.
Mode of Inheritance Hereditary hearing loss may be transmitted in an autosomal dominant , autosomal recessive , or X-linked manner or by maternal inheritance. Autosomal Dominant Inheritance — Risk to Family Members Parents of a proband Most individuals diagnosed as having autosomal dominant hereditary hearing loss have a deaf parent; the family history is rarely negative. A proband with autosomal dominant hereditary hearing loss may have the disorder as the result of a de novo pathogenic variant.
The proportion of cases caused by de novo pathogenic variants is unknown but thought to be small. Recommendations for the evaluation of parents of a proband with an apparent de novo pathogenic variant include audiometry and molecular genetic testing. Note: Although most individuals diagnosed with autosomal dominant hereditary hearing loss have a deaf parent, the family history may appear to be negative because of failure to recognize hereditary hearing loss in family members, late onset in a parent, reduced penetrance of the pathogenic variant in an asymptomatic parent, or a de novo variant for hereditary hearing loss.
The risk to sibs depends on the genetic status of a proband 's parents. Autosomal Recessive Inheritance — Risk to Family Members Parents of a proband The parents of an individual diagnosed as having autosomal recessive hereditary hearing loss are obligate heterozygotes i.
Heterozygote Carrier Detection Carrier testing for at-risk relatives requires prior identification of the pathogenic variants in the family. The father of a male proband will not be hemizygous for the X-linked pathogenic variant identified in his son.
In a family with more than one individual with X-linked deafness, the mother of a deaf male is an obligate heterozygote carrier. Note: If a woman has more than one deaf child and no other affected relatives and if the pathogenic variant cannot be detected in her leukocyte DNA, she most likely has germline mosaicism.
If a male is the only deaf family member, the mother may be a heterozygote carrier or the deaf male may have a de novo pathogenic variant , in which case the mother is not a carrier. A female proband may have inherited the pathogenic variant from either her mother or her father, or the variant may be de novo. Detailed evaluation of the parents and review of the extended family history may help distinguish probands with a de novo variant from those with an inherited variant.
Molecular genetic testing of the mother and possibly the father, or subsequently the father can determine if the pathogenic variant was inherited. Male proband. Males who inherit the variant will be deaf; females who inherit the variant will be heterozygotes carriers and are likely to have normal hearing.
Female proband. The risk to sibs depends on the genetic status of the parents:. If the father of the proband has a pathogenic variant , he will transmit it to all his daughters and none of his sons. If the proband represents a simplex case i. Males with X-linked hereditary hearing loss will transmit the pathogenic variant to all of their daughters and none of their sons.
Heterozygote Carrier Detection Carrier testing for at-risk relatives requires prior identification of the pathogenic variant in the family. Most of the risk is attributed to autosomal dominant syndromic deafness. If both syndromic deafness and a family history of autosomal dominant inheritance can be excluded, the risk of deafness is chiefly related to pseudodominant inheritance of recessive deafness.
If the couple has autosomal recessive deafness known to be caused by deafness-causing variants at two different loci, the chance of deafness in their offspring is lower than that of the general population. Related Genetic Counseling Issues See Management, Evaluation of Relatives at Risk for information on evaluating at-risk relatives for the purpose of early diagnosis and treatment.
The following points are noteworthy: Communication with individuals who are members of the Deaf community and who sign requires the services of a skilled interpreter. Members of the Deaf community may view deafness as a distinguishing characteristic and not as a handicap, impairment, or medical condition requiring a "treatment" or "cure," or to be "prevented. Many deaf people are interested in obtaining information about the cause of their own deafness, including information on medical, educational, and social services, rather than information about prevention, reproduction, or family planning.
The use of certain terms is preferred: probability or chance vs risk; deaf and hard-of-hearing vs hearing impaired.
Terms such as "abnormal" should be avoided. It is appropriate to offer genetic counseling including discussion of the probability of deafness in offspring and reproductive options to young adults who are deaf.
Prenatal Testing and Preimplantation Genetic Testing Once the pathogenic variant s have been identified in the family, prenatal and preimplantation genetic testing for deafness or hearing loss are possible. Nonsyndromic hearing loss. Nonsyndromic congenital hearing loss. Listening and Spoken Language Knowledge Center. This site, developed with support from the National Institute on Deafness and Other Communication Disorders, provides information about newborn hearing screening and hearing loss.
Management Treatment of Manifestations Ideally, the team evaluating and treating the deaf individual should consist of an otolaryngologist with expertise in the management of early childhood otologic disorders, an audiologist experienced in the assessment of hearing loss in children, a clinical geneticist, and a pediatrician.
Prevention of Primary Manifestations Whenever a child presents with progressive sensorineural hearing loss and progressive ataxia, with or without neurologic or cutaneous symptoms, biotinidase deficiency should be considered, with initiation of treatment as early as possible to prevent irreversible sequelae.
Prevention of Secondary Complications Regardless of its etiology, uncorrected hearing loss has consistent sequelae. Surveillance Sequential audiologic examinations are essential to: Document the stability or progression of the hearing loss;. Evaluation of Relatives at Risk At a minimum, all children at risk for hereditary deafness and hearing loss should receive screening audiometry. American College of Medical Genetics and Genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.
Available online. Accessed Predictive value of GJB2 mutation status for hearing outcomes of pediatric cochlear implantation. Otolaryngol Head Neck Surg. The effect of GJB2 allele variants on performance after cochlear implantation.
Fischel-Ghodsian N. Mitochondrial mutations and hearing loss: paradigm for mitochondrial genetics. Am J Hum Genet. Guide for the evaluation of hearing handicap. Kenneson A, Cannon MJ. Review and meta-analysis of the epidemiology of congenital cytomegalovirus CMV infection. Rev Med Virol. Valganciclovir for symptomatic congenital cytomegalovirus disease. Mitochondrial deafness. Clin Genet. Langereis M, Vermeulen A. School performance and wellbeing of children with CI in different communicative—educational environments.
Int J Pediatr Otorhinolaryngol. The children speak: an examination of the quality of life of pediatric cochlear implant users. Northern JL, Downs M. Hearing in Children. The genetic basis of deafness in populations of African descent. J Genet Genomics. The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands. Eur J Hum Genet.
Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance. Hear Res. Copy number variants are a common cause of non-syndromic hearing loss. Genome Med. Massively parallel sequencing for genetic diagnosis of hearing loss: the new standard of care. Comprehensive genetic testing in the clinical evaluation of patients with hearing loss. Hum Genet. Sensorineural hearing loss in children. AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.
Hum Mutat. Hereditary Hearing Loss and Its Syndromes. New York: Oxford University Press; The Hereditary Hearing Loss Homepage. Current concepts in age-related hearing loss: epidemiology and mechanistic pathways. Long term speech perception after cochlear implant in pediatric patients with GJB2 mutations. Auris Nasus Larynx. Revision History 27 July bp Comprehensive update posted live. GeneReviews is a registered trademark of the University of Washington, Seattle.
All rights reserved. Hereditary Hearing Loss and Deafness Overview. In this GeneReview. Bulk Download. GeneReviews Links. Tests in GTR by Gene. Related information. MedGen Related information in MedGen. Similar articles in PubMed. Adaptive evolution of tight junction protein claudin in echolocating whales. Epub Aug Review Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing.
Finsterer J, Fellinger J. Front Genet. Epub Jul 2. Diverse spectrum of rare deafness genes underlies early-childhood hearing loss in Japanese patients: a cross-sectional, multi-center next-generation sequencing study.
Orphanet J Rare Dis. Epub Oct Review Strategy for the customized mass screening of genetic sensorineural hearing loss in koreans. Korean J Audiol. Epub Sep Recent Activity. Clear Turn Off Turn On. About half of all childhood deafness is caused by hereditary factors. Hereditary hearing loss can take several forms, including Usher syndrome or Pendred syndrome, age-related hearing loss, and otosclerosis.
A family audiogram, ocular examination, imaging of the inner ear, urine examination for microscopic haematuria, testing for congenital CMV, and discussion of genetic referral are all routine initial investigations for most types of sensorineural hearing loss. On the other hand, hearing loss is on the rise and is now the third most frequent health problem in the United States. Hearing loss can be caused by so many things, including age, disease, heredity, and drugs and exposure to loud, continuous noise.
When a kid is born with hearing loss or develops a hearing loss in early childhood, the reason is genetic and attributable to a genetic change or mutation in more than half of the instances. The majority of children with hereditary hearing loss have no additional birth abnormalities or significant health issues. On the other hand, some types of hereditary hearing loss may be linked to a hereditary syndrome that includes other health issues such as heart defects, eyesight problems, or developmental delays.
Sensorineural hearing loss NHL , amelogenesis imperfecta, nail abnormalities, and, in some instances, retinal pigmentation are all symptoms of Heimler syndrome hs; mim The cause of hs is unknown genetically. In this paper, I describe the results of a research of eighths families.
In six families, whole-exome sequencing, SNP arrays, and Sanger sequencing revealed biallelic mutations in pex1 or pex6. A spectrum of autosomal recessive peroxisome biogenesis disorders pbds , including Zellweger syndrome, is known to be caused by loss-of-function mutations in pex1 and pex6.
Hypomorphic mutations, or the combination of a loss of function and a hypomorphic mutation, cause hs, as I show here. Hereditary hearing loss hhl is a neurosensory condition that affects one in every infants and approximately one-third of persons over 65 around the world. Congenital deafness is a hereditary condition that can be monogenetic or polygenic.
The intricacy, heterogeneity, and deep position of the inner ear below the brainstem and the small number of cells present in the cochlea are critical obstacles for current therapeutic efforts to cure deafness.
Targeted genome editing is a promising treatment option for hhl because it can restore normal cochlear function by targeting faulty molecular components of the auditory transmission. The key to a successful history is to seek hearing loss risk factors, inquire about balance since this might be compromised without being part of the initial complaint , and uncover genetic risks in three-generation family history.
Document the impact of hearing loss on developmental abilities, speech, language, and communication if hearing loss is not detected at the newborn hearing screening and the child is older. Since , the British Society of Audiology has suggested that when a child is old enough, they be inquired about tinnitus. Damage to the ear, particularly the inner ear, can cause hearing loss. Babies may be born with hearing loss due to a viral infection contracted during pregnancy, for example.
In some instances, the cause is hereditary, resulting from mutations in genes linked to the hearing process. Hearing loss can sometimes be caused by a mix of hereditary and environmental causes.
For example, some people are more likely to experience hearing loss after using specific antibiotics due to a genetic mutation. Over the last 25 years, the relative incidence of different types of sensorineural hearing loss in children has altered dramatically. Maternal rubella infection, postnatal ototoxicity, and meningitis were once the leading causes of severe and profound sensorineural hearing loss, but, thanks to a vaccine, maternal rubella infection as a cause of congenital hearing loss has almost totally disappeared.
As a cause of congenital deafness, it has nearly completely disappeared. Similarly, widespread vaccination against Haemophilus influenzae type b has lowered the prevalence of meningitis-related deafness in children. Despite your hearing loss, these methods can help you communicate more effectively: You can share this message with your friends and family.
Inform them that you suffer from hearing loss. Place yourself in a listening position. Disable the background noise. The sound of a television, for example, can disrupt a discussion. Request that others talk clearly but not too loudly. Acquired hearing loss, which can afflict children at any age after birth, is also a possibility. A variety of factors, including can cause acquired hearing loss A perforated eardrum Noise-induced hearing loss is caused by excessive noise exposure.
Otitis media that is untreated or frequently occurs ear infections Toxic exposure from secondhand smoking or other pollutants Hearing loss can be caused by so many factors, including these four typical causes of temporary hearing loss in children.
Hearing loss can be passed down through the generations, whether or not there is a family history of hearing loss. Many families with hereditary hearing loss are impacted; in other families, just one member is affected.
The goal is for ENT doctors to play a significant role in evaluating children with hearing problems. The group with an unclear cause continues to have a high prevalence. Methods: A retrospective examination of deaf students aged 5 to 16 years was conducted in this study. A variety of clinical and laboratory examinations were carried out.
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