Autosomal dominant nonsyndromic hearing loss 44(DFNA44)

MedGen UID:: 334525
•Concept ID:: C1843895
•: Disease or Syndrome

Synonyms:	Deafness, autosomal dominant 44; DFNA44 Nonsyndromic Hearing Loss and Deafness

Gene (location): Gene(s) directly associated with this condition or phenotype.	CCDC50 (3q28)

Monarch Initiative:	MONDO:0011832
OMIM®:	607453

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 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

Abnormality of the ear
- Sensorineural hearing impairment

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 44

Professional guidelines

PubMed

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

Taylor KR, Deluca AP, Shearer AE, Hildebrand MS, Black-Ziegelbein EA, Anand VN, Sloan CM, Eppsteiner RW, Scheetz TE, Huygen PL, Smith RJ, Braun TA, Casavant TL
Hum Mutat 2013 Apr;34(4):539-45. Epub 2013 Feb 19 doi: 10.1002/humu.22268. PMID: 23280582 Free PMC Article

See all (1)

Recent clinical studies

Diagnosis

Novel compound heterozygous synonymous and missense variants in the MYO7A gene identified by next-generation sequencing in a Chinese family with nonsyndromic hearing loss.

Xiang Y, Xu C, Xu Y, Zhou L, Tang S, Xu X
J Clin Lab Anal 2022 Nov;36(11):e24708. Epub 2022 Sep 26 doi: 10.1002/jcla.24708. PMID: 36164746 Free PMC Article

AudioGene: predicting hearing loss genotypes from phenotypes to guide genetic screening.

See all (2)