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Hearing loss, autosomal dominant 79(DFNA79)

MedGen UID:
1735338
•Concept ID:
C5436772
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 79
 
Gene (location): SCD5 (4q21.22)
 
Monarch Initiative: MONDO:0033668
OMIM®: 619086

Definition

Autosomal dominant deafness-79 (DFNA79) is a nonsyndromic form of progressive sensorineural hearing loss with age of onset ranging from 20 years to 65 years. Affected females appear to have milder hearing loss than males (Lu et al., 2020). [from OMIM]

Clinical features

From HPO
Progressive sensorineural hearing impairment
MedGen UID:
335894
•Concept ID:
C1843156
•
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
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

Recent clinical studies

Etiology

On-Top Index Pollicization After a Partial Amputation of a Syndactylized Hypoplastic Thumb in a Patient With Townes-Brocks Syndrome.
Lorencin M, Bulic K
Ann Plast Surg 2017 Sep;79(3):e7-e10. doi: 10.1097/SAP.0000000000001080. PMID: 28509696
Cochlear implantation outcomes in children with Waardenburg syndrome.
Amirsalari S, Ajallouyean M, Saburi A, Haddadi Fard A, Abed M, Ghazavi Y
Eur Arch Otorhinolaryngol 2012 Oct;269(10):2179-83. Epub 2011 Dec 11 doi: 10.1007/s00405-011-1877-3. PMID: 22159916
Otosclerosis in a black child: diagnostic acoustic impedance studies.
Schweitzer VG, Lilly DJ
Int J Pediatr Otorhinolaryngol 1984 Oct;8(1):79-90. doi: 10.1016/s0165-5876(84)80028-2. PMID: 6500827

Diagnosis

Dental and Craniofacial Characteristics in Patients With 14Q22.1-Q22.2 Deletion: A Case Series.
Roelandt MA, Devriendt K, de Llano-Pérula MC, Raes M, Willems G, Verdonck A
Cleft Palate Craniofac J 2021 Apr;58(4):505-513. Epub 2020 Oct 16 doi: 10.1177/1055665620954090. PMID: 33063524
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
Meshcheryakova TI, Zinchenko RA, Vasilyeva TA, Marakhonov AV, Zhylina SS, Petrova NV, Kozhanova TV, Belenikin MS, Petrin AN, Mutovin GR
Ann Hum Genet 2015 Mar;79(2):148-52. Epub 2015 Jan 15 doi: 10.1111/ahg.12098. PMID: 25590586
Clinical characterization of a novel COCH mutation G87V in a Chinese DFNA9 family.
Chen DY, Chai YC, Yang T, Wu H
Int J Pediatr Otorhinolaryngol 2013 Oct;77(10):1711-5. Epub 2013 Aug 9 doi: 10.1016/j.ijporl.2013.07.031. PMID: 23993205
Cochlear implantation outcomes in children with Waardenburg syndrome.
Amirsalari S, Ajallouyean M, Saburi A, Haddadi Fard A, Abed M, Ghazavi Y
Eur Arch Otorhinolaryngol 2012 Oct;269(10):2179-83. Epub 2011 Dec 11 doi: 10.1007/s00405-011-1877-3. PMID: 22159916
Proximal symphalangism and premature ovarian failure.
Kadi N, Tahiri L, Maziane M, Mernissi FZ, Harzy T
Joint Bone Spine 2012 Jan;79(1):83-4. Epub 2011 Nov 15 doi: 10.1016/j.jbspin.2011.05.029. PMID: 22088931

Prognosis

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

Clinical prediction guides

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article
A humanized mouse model, demonstrating progressive hearing loss caused by MYO6 p.C442Y, is inherited in a semi-dominant pattern.
Wang J, Shen J, Guo L, Cheng C, Chai R, Shu Y, Li H
Hear Res 2019 Aug;379:79-88. Epub 2019 Apr 26 doi: 10.1016/j.heares.2019.04.014. PMID: 31103816
A clinical and molecular analysis of branchio-oculo-facial syndrome patients in Russia revealed new mutations in TFAP2A.
Meshcheryakova TI, Zinchenko RA, Vasilyeva TA, Marakhonov AV, Zhylina SS, Petrova NV, Kozhanova TV, Belenikin MS, Petrin AN, Mutovin GR
Ann Hum Genet 2015 Mar;79(2):148-52. Epub 2015 Jan 15 doi: 10.1111/ahg.12098. PMID: 25590586
The hip in Stickler syndrome.
Rose PS, Ahn NU, Levy HP, Magid D, Davis J, Liberfarb RM, Sponseller PD, Francomano CA
J Pediatr Orthop 2001 Sep-Oct;21(5):657-63. PMID: 11521037
Description of a large kindred with autosomal dominant inheritance of branchial arch anomalies, hearing loss, and ear pits, and exclusion of the branchio-oto-renal (BOR) syndrome gene locus (chromosome 8q13.3).
Stratakis CA, Lin JP, Rennert OM
Am J Med Genet 1998 Sep 23;79(3):209-14. PMID: 9788564

Recent systematic reviews

WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome.
Lim HD, Lee SM, Yun YJ, Lee DH, Lee JH, Oh SH, Lee SY
BMC Med Genomics 2023 Apr 11;16(1):79. doi: 10.1186/s12920-023-01506-x. PMID: 37041640Free PMC Article

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    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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