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Autosomal dominant nonsyndromic hearing loss 25(DFNA25)

MedGen UID:
344221
•Concept ID:
C1854158
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 25; DFNA25 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): SLC17A8 (12q23.1)
 
Monarch Initiative: MONDO:0011568
OMIM®: 605583

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene. [from MONDO]

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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Novel TMC1 structural and splice variants associated with congenital nonsyndromic deafness in a Sudanese pedigree.
Meyer CG, Gasmelseed NM, Mergani A, Magzoub MM, Muntau B, Thye T, Horstmann RD
Hum Mutat 2005 Jan;25(1):100. doi: 10.1002/humu.9302. PMID: 15605408
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000

Diagnosis

Diagnostic Yield of Targeted Hearing Loss Gene Panel Sequencing in a Large German Cohort With a Balanced Age Distribution from a Single Diagnostic Center: An Eight-year Study.
Tropitzsch A, Schade-Mann T, Gamerdinger P, Dofek S, Schulte B, Schulze M, Battke F, Fehr S, Biskup S, Heyd A, Müller M, Löwenheim H, Vona B, Holderried M
Ear Hear 2022 May/Jun;43(3):1049-1066. doi: 10.1097/AUD.0000000000001159. PMID: 34753855Free PMC Article
Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.
Azizi Malamiri R, Mohammadi Asl J, Ghanbari F
Iran Biomed J 2021 Sep 1;25(5):368-73. doi: 10.52547/ibj.25.5.368. [Epub ahead of print] PMID: 34425661Free PMC Article
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273
Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss.
Makishima T, Kurima K, Brewer CC, Griffith AJ
Otol Neurotol 2004 Sep;25(5):714-9. doi: 10.1097/00129492-200409000-00011. PMID: 15354000
Inherited nonsyndromic hearing loss. An audiovestibular study in a large family with autosomal dominant progressive hearing loss related to DFNA2.
Marres H, van Ewijk M, Huygen P, Kunst H, van Camp G, Coucke P, Willems P, Cremers C
Arch Otolaryngol Head Neck Surg 1997 Jun;123(6):573-7. doi: 10.1001/archotol.1997.01900060015002. PMID: 9193215

Prognosis

Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.
Azizi Malamiri R, Mohammadi Asl J, Ghanbari F
Iran Biomed J 2021 Sep 1;25(5):368-73. doi: 10.52547/ibj.25.5.368. [Epub ahead of print] PMID: 34425661Free PMC Article
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X
Genet Med 2015 Mar;17(3):210-8. Epub 2014 Jul 31 doi: 10.1038/gim.2014.90. PMID: 25077649
Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.
Sokolov M, Brownstein Z, Frydman M, Avraham KB
J Basic Clin Physiol Pharmacol 2014 Sep;25(3):289-92. doi: 10.1515/jbcpp-2014-0053. PMID: 25153233Free PMC Article
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273

Clinical prediction guides

Identification of a novel DFNA5 mutation, IVS7-2 a > G, in a Chinese family with non-syndromic sensorineural hearing loss.
Jin Z, Zhu Q, Lu Y, Cheng J, Yuan H, Han D
Acta Otolaryngol 2022 May;142(5):448-453. Epub 2022 May 31 doi: 10.1080/00016489.2019.1597984. PMID: 35640035
Identification of a Novel Stop Loss Mutation in P2RX2 Gene in an Iranian Family with Autosomal Nonsyndromic Hearing Loss.
Azizi Malamiri R, Mohammadi Asl J, Ghanbari F
Iran Biomed J 2021 Sep 1;25(5):368-73. doi: 10.52547/ibj.25.5.368. [Epub ahead of print] PMID: 34425661Free PMC Article
Identification of OSBPL2 as a novel candidate gene for progressive nonsyndromic hearing loss by whole-exome sequencing.
Xing G, Yao J, Wu B, Liu T, Wei Q, Liu C, Lu Y, Chen Z, Zheng H, Yang X, Cao X
Genet Med 2015 Mar;17(3):210-8. Epub 2014 Jul 31 doi: 10.1038/gim.2014.90. PMID: 25077649
Apparent phenotypic anticipation in autosomal dominant connexin 26 deafness.
Sokolov M, Brownstein Z, Frydman M, Avraham KB
J Basic Clin Physiol Pharmacol 2014 Sep;25(3):289-92. doi: 10.1515/jbcpp-2014-0053. PMID: 25153233Free PMC Article
A novel nonsense mutation in MYO6 is associated with progressive nonsyndromic hearing loss in a Danish DFNA22 family.
Sanggaard KM, Kjaer KW, Eiberg H, Nürnberg G, Nürnberg P, Hoffman K, Jensen H, Sørum C, Rendtorff ND, Tranebjaerg L
Am J Med Genet A 2008 Apr 15;146A(8):1017-25. doi: 10.1002/ajmg.a.32174. PMID: 18348273

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