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 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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Tinnitus

MedGen UID:: 52760
•Concept ID:: C0040264
•: Disease or Syndrome

Tinnitus is an auditory perception that can be described as the experience of sound, in the ear or in the head, in the absence of external acoustic stimulation.

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Abnormal vestibular function

MedGen UID:: 334848
•Concept ID:: C1843865
•: Finding

An abnormality of the functioning of the vestibular apparatus.

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Abnormal inner ear morphology

MedGen UID:: 868967
•Concept ID:: C4023381
•: Anatomical Abnormality

A structural anomaly of the internal part of the ear.

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Ear malformation

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

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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)