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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 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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Diagnosis

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
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
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
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
Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

Prognosis

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

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

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