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Autosomal dominant nonsyndromic hearing loss 64(DFNA64)

MedGen UID:
481578
•Concept ID:
C3279948
•
Disease or Syndrome
Synonym: Deafness, autosomal dominant 64
 
Gene (location): DIABLO (12q24.31)
 
Monarch Initiative: MONDO:0013593
OMIM®: 614152

Definition

Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO 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.
See: Feature record | Search on this feature
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.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article

Diagnosis

Prevalence and Clinical Characteristics of Hearing Loss Caused by MYH14 Variants.
Hiramatsu K, Nishio SY, Kitajiri SI, Kitano T, Moteki H, Usami SI, On Behalf Of The Deafness Gene Study Consortium
Genes (Basel) 2021 Oct 15;12(10) doi: 10.3390/genes12101623. PMID: 34681017Free PMC Article

Prognosis

Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.
Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC
J Hum Genet 2019 Mar;64(3):257-260. Epub 2018 Dec 4 doi: 10.1038/s10038-018-0546-4. PMID: 30514912

Clinical prediction guides

Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.
Dias AMM, Lezirovitz K, Nicastro FS, Mendes BCA, Mingroni-Netto RC
J Hum Genet 2019 Mar;64(3):257-260. Epub 2018 Dec 4 doi: 10.1038/s10038-018-0546-4. PMID: 30514912
Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss.
Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H
Hum Mutat 2005 Dec;26(6):591. doi: 10.1002/humu.9384. PMID: 16287143

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    Clinical resources

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