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Hearing loss, autosomal recessive 125(DFNB125)

MedGen UID:
1861028
•Concept ID:
C5935633
•
Disease or Syndrome
Synonym: DEAFNESS, AUTOSOMAL RECESSIVE 125
 
Gene (location): GAS2 (11p14.3)
 
Monarch Initiative: MONDO:0971152
OMIM®: 620877

Definition

Autosomal recessive deafness-125 (DFNB125) is characterized by congenital nonsyndromic sensorineural hearing loss. Mild progression in the lower frequencies has been observed. Hearing loss results from a mechanism that alters the way the traveling sound wave propagates along the cochlea (Chen et al., 2021). [from OMIM]

Clinical features

From HPO
Sensorineural hearing loss disorder
MedGen UID:
9164
•Concept ID:
C0018784
•
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
See: Feature record | Search on this feature
Abnormal vestibular function
MedGen UID:
334848
•Concept ID:
C1843865
•
Finding
An abnormality of the functioning of the vestibular apparatus.
See: Feature record | Search on this feature
Delayed speech and language development
MedGen UID:
105318
•Concept ID:
C0454644
•
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
See: Feature record | Search on this feature
Abnormal facial shape
MedGen UID:
98409
•Concept ID:
C0424503
•
Finding
An abnormal morphology (form) of the face or its components.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Cochlear implantation in patients with enlarged vestibular aqueduct. A case series with literature review.
Clarós P, Fokouo JV, Clarós A
Cochlear Implants Int 2017 May;18(3):125-129. Epub 2017 Jan 25 doi: 10.1080/14670100.2016.1268754. PMID: 28120638
Variations in the cochlear implant experience in children with enlarged vestibular aqueduct.
Pritchett C, Zwolan T, Huq F, Phillips A, Parmar H, Ibrahim M, Thorne M, Telian S
Laryngoscope 2015 Sep;125(9):2169-74. Epub 2015 Feb 3 doi: 10.1002/lary.25187. PMID: 25647353
Identification of a SNP in a regulatory region of GJB2 associated with idiopathic nonsyndromic autosomal recessive hearing loss in a multicenter study.
Ramsebner R, Ludwig M, Lucas T, de Jong D, Hamader G, del Castillo I, Parzefall T, Baumgartner WD, Schoefer C, Szuhai K, Frei K
Otol Neurotol 2013 Jun;34(4):650-6. doi: 10.1097/MAO.0b013e31828d6501. PMID: 23640091
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL
Invest Ophthalmol Vis Sci 2008 Dec;49(12):5532-9. Epub 2008 Jul 18 doi: 10.1167/iovs.08-2009. PMID: 18641288Free PMC Article
Handicapping and genetic disorders in Zimbabwean institutions: a diagnostic survey.
Viljoen DL, Mossop RT
Cent Afr J Med 1989 Feb;35(2):323-6. PMID: 2528409

Diagnosis

Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss.
Zhou H, Kuermanhan A, Zhang Z, Wang W, Dong J, Zhou Z, Mu J, Zhao L, Wang J, Li B, Chen B
Int J Pediatr Otorhinolaryngol 2019 Oct;125:128-132. Epub 2019 Jun 21 doi: 10.1016/j.ijporl.2019.06.018. PMID: 31301639
Audiologic evaluations of children with mucopolysaccharidosis.
Gökdoğan Ç, Altinyay Ş, Gökdoğan O, Tutar H, Gündüz B, Okur İ, Tümer L, Kemaloğlu YK
Braz J Otorhinolaryngol 2016 May-Jun;82(3):281-4. Epub 2015 Sep 25 doi: 10.1016/j.bjorl.2015.05.007. PMID: 26601996Free PMC Article
Genetics of hearing and deafness.
Angeli S, Lin X, Liu XZ
Anat Rec (Hoboken) 2012 Nov;295(11):1812-29. Epub 2012 Oct 8 doi: 10.1002/ar.22579. PMID: 23044516Free PMC Article
An unfortunate case of Pendred syndrome.
Sanei-Moghaddam A, Wilson T, Kumar S, Gray R
J Laryngol Otol 2011 Sep;125(9):965-7. Epub 2011 Jul 12 doi: 10.1017/S0022215111001630. PMID: 21745434
Handicapping and genetic disorders in Zimbabwean institutions: a diagnostic survey.
Viljoen DL, Mossop RT
Cent Afr J Med 1989 Feb;35(2):323-6. PMID: 2528409

Therapy

An unfortunate case of Pendred syndrome.
Sanei-Moghaddam A, Wilson T, Kumar S, Gray R
J Laryngol Otol 2011 Sep;125(9):965-7. Epub 2011 Jul 12 doi: 10.1017/S0022215111001630. PMID: 21745434

Prognosis

Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss.
Zhou H, Kuermanhan A, Zhang Z, Wang W, Dong J, Zhou Z, Mu J, Zhao L, Wang J, Li B, Chen B
Int J Pediatr Otorhinolaryngol 2019 Oct;125:128-132. Epub 2019 Jun 21 doi: 10.1016/j.ijporl.2019.06.018. PMID: 31301639
Cochlear implantation in patients with enlarged vestibular aqueduct. A case series with literature review.
Clarós P, Fokouo JV, Clarós A
Cochlear Implants Int 2017 May;18(3):125-129. Epub 2017 Jan 25 doi: 10.1080/14670100.2016.1268754. PMID: 28120638
Variations in the cochlear implant experience in children with enlarged vestibular aqueduct.
Pritchett C, Zwolan T, Huq F, Phillips A, Parmar H, Ibrahim M, Thorne M, Telian S
Laryngoscope 2015 Sep;125(9):2169-74. Epub 2015 Feb 3 doi: 10.1002/lary.25187. PMID: 25647353
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.
Sandberg MA, Rosner B, Weigel-DiFranco C, McGee TL, Dryja TP, Berson EL
Invest Ophthalmol Vis Sci 2008 Dec;49(12):5532-9. Epub 2008 Jul 18 doi: 10.1167/iovs.08-2009. PMID: 18641288Free PMC Article
Arthrogryposis multiplex with deafness, inguinal hernias, and early death: a family report of a probably autosomal recessive trait.
Tiemann C, Bührer C, Burwinkel B, Wirtenberger M, Hoehn T, Hübner C, van Landeghem FK, Stoltenburg G, Obladen M
Am J Med Genet A 2005 Aug 30;137(2):125-9. doi: 10.1002/ajmg.a.30860. PMID: 16059941

Clinical prediction guides

Identification of a novel homozygous mutation in the MYO15A gene in a Kazakh family with non-syndromic hearing loss.
Zhou H, Kuermanhan A, Zhang Z, Wang W, Dong J, Zhou Z, Mu J, Zhao L, Wang J, Li B, Chen B
Int J Pediatr Otorhinolaryngol 2019 Oct;125:128-132. Epub 2019 Jun 21 doi: 10.1016/j.ijporl.2019.06.018. PMID: 31301639
Cochlear implantation in patients with enlarged vestibular aqueduct. A case series with literature review.
Clarós P, Fokouo JV, Clarós A
Cochlear Implants Int 2017 May;18(3):125-129. Epub 2017 Jan 25 doi: 10.1080/14670100.2016.1268754. PMID: 28120638
A new autosomal recessive nonsyndromic hearing impairment locus DFNB96 on chromosome 1p36.31-p36.13.
Ansar M, Lee K, Naqvi SK, Andrade PB, Basit S, Santos-Cortez RL, Ahmad W, Leal SM
J Hum Genet 2011 Dec;56(12):866-8. Epub 2011 Sep 22 doi: 10.1038/jhg.2011.110. PMID: 21937999Free PMC Article
A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
Kalay E, de Brouwer AP, Caylan R, Nabuurs SB, Wollnik B, Karaguzel A, Heister JG, Erdol H, Cremers FP, Cremers CW, Brunner HG, Kremer H
J Mol Med (Berl) 2005 Dec;83(12):1025-32. Epub 2005 Nov 8 doi: 10.1007/s00109-005-0719-4. PMID: 16283141

Supplemental Content

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    Related information

    • ClinVar
      Related medical variations
    • Gene
      Related information in NCBI Gene
    • OMIM
      Related records in OMIM
    • OMIM(Genes)
      OMIM records containing genes associated with phenotypes registered in MedGen
    • PMC Articles
      Related information in PubMed Central Links
    • PubMed
      Related literature resources in PubMed
    • PubMed (OMIM)
      Related literature resources in PubMed

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