Autosomal dominant nonsyndromic hearing loss 27(DFNA27)

MedGen UID:: 854637
•Concept ID:: C3887929
•: Disease or Syndrome

Synonym:	Deafness, autosomal dominant 27

Gene (location): Gene(s) directly associated with this condition or phenotype.	REST (4q12)

Monarch Initiative:	MONDO:0012902
OMIM®:	612431

Definition

DFNA27 is characterized by postlingual progressive moderate to profound sensorineural hearing loss (Peters et al., 2008). [from OMIM]

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.

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Ear malformation
- Sensorineural hearing loss disorder

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Nonsyndromic genetic hearing loss
  - Autosomal dominant nonsyndromic hearing loss
    - Autosomal dominant nonsyndromic hearing loss 27

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: 34753855 Free PMC Article

GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.

Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

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