U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
Images (3)
Image from GeneReviews
details
Image from GeneReviews
details
Image from GeneReviews
details

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

Supplemental Content

Table of contents

    Clinical resources

    Reviews

    Related information

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...