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Autosomal dominant nonsyndromic hearing loss 28(DFNA28)

MedGen UID:
324846
•Concept ID:
C1837640
•
Disease or Syndrome
Synonyms: Deafness, autosomal dominant 28; DFNA28 Nonsyndromic Hearing Loss and Deafness
 
Gene (location): GRHL2 (8q22.3)
 
Monarch Initiative: MONDO:0012083
OMIM®: 608641

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing impairment
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

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

Monogenic Causes of Low-Frequency Non-Syndromic Hearing Loss.
Gan NS, Oziębło D, Skarżyński H, Ołdak M
Audiol Neurootol 2023;28(5):327-337. Epub 2023 Apr 28 doi: 10.1159/000529464. PMID: 37121227
Four Novel Variants in POU4F3 Cause Autosomal Dominant Nonsyndromic Hearing Loss.
Cui TY, Gao X, Huang SS, Sun YY, Zhang SQ, Jiang XX, Yang YZ, Kang DY, Zhu QW, Yuan YY
Neural Plast 2020;2020:6137083. Epub 2020 Jul 1 doi: 10.1155/2020/6137083. PMID: 32684921Free PMC Article
A Missense Mutation in POU4F3 Causes Midfrequency Hearing Loss in a Chinese ADNSHL Family.
Gao X, Xu JC, Wang WQ, Yuan YY, Bai D, Huang SS, Wang GJ, Su Y, Li J, Kang DY, Zhang MG, Lin X, Dai P
Biomed Res Int 2018;2018:5370802. Epub 2018 Apr 4 doi: 10.1155/2018/5370802. PMID: 29850532Free PMC Article
Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article
Nonsyndromic hearing loss: an analysis of audiograms.
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Prognosis

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article

Clinical prediction guides

Exome sequencing and linkage analysis identified tenascin-C (TNC) as a novel causative gene in nonsyndromic hearing loss.
Zhao Y, Zhao F, Zong L, Zhang P, Guan L, Zhang J, Wang D, Wang J, Chai W, Lan L, Li Q, Han B, Yang L, Jin X, Yang W, Hu X, Wang X, Li N, Li Y, Petit C, Wang J, Wang HY, Wang Q
PLoS One 2013;8(7):e69549. Epub 2013 Jul 30 doi: 10.1371/journal.pone.0069549. PMID: 23936043Free PMC Article
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
Kelley PM, Harris DJ, Comer BC, Askew JW, Fowler T, Smith SD, Kimberling WJ
Am J Hum Genet 1998 Apr;62(4):792-9. doi: 10.1086/301807. PMID: 9529365Free PMC Article

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