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Hearing loss, autosomal dominant 76(DFNA76)

MedGen UID:: 1710038
•Concept ID:: C5394080
•: Disease or Syndrome

Synonym:	Deafness, autosomal dominant 76

Gene (location): Gene(s) directly associated with this condition or phenotype.	PLS1 (3q23)

Monarch Initiative:	MONDO:0032917
OMIM®:	618787

Definition

Autosomal dominant deafness-76 (DFNA76) is characterized by progressive or nonprogressive hearing loss with variable age at onset. Hearing loss is more severe at higher frequencies in most patients (Schrauwen et al., 2019; Morgan et al., 2019; Diaz-Horta et al., 2019). [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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Abnormal vestibular function

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

An abnormality of the functioning of the vestibular apparatus.

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Positive Romberg sign

MedGen UID:: 66017
•Concept ID:: C0240914
•: Finding

The patient stands with the feet placed together and balance and is asked to close his or her eyes. A loss of balance upon eye closure is a positive Romberg sign and is interpreted as indicating a deficit in proprioception.

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Motor delay

MedGen UID:: 381392
•Concept ID:: C1854301
•: Finding

A type of Developmental delay characterized by a delay in acquiring motor skills.

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Abnormality of the nervous system
- Motor delay
- Positive Romberg sign
Ear malformation
- Abnormal vestibular function
- Sensorineural hearing loss disorder

Recent clinical studies

Etiology

Fetal Phenotype of CHARGE Syndrome with a Molecular Confirmation: A Series of 13 Cases.

Yu QX, Zhen L, Li DZ
Fetal Diagn Ther 2024;51(4):388-394. Epub 2024 Apr 17 doi: 10.1159/000538949. PMID: 38631314

Familial clustering and genetic heterogeneity in Meniere's disease.

Requena T, Espinosa-Sanchez JM, Cabrera S, Trinidad G, Soto-Varela A, Santos-Perez S, Teggi R, Perez P, Batuecas-Caletrio A, Fraile J, Aran I, Martin E, Benitez J, Pérez-Fernández N, Lopez-Escamez JA
Clin Genet 2014 Mar;85(3):245-52. Epub 2013 Apr 9 doi: 10.1111/cge.12150. PMID: 23521103

Genetic epidemiological studies of congenital/prelingual deafness in Turkey: population structure and mating type are major determinants of mutation identification.

Tekin M, Arici ZS
Am J Med Genet A 2007 Jul 15;143A(14):1583-91. doi: 10.1002/ajmg.a.31702. PMID: 17444514

See all (3)

Diagnosis

Identification of novel missense mutation related with non-syndromic sensorineural deafness, DFNA11 in korean family by NGS.

Kim YR, Kim HM, Lee B, Baek JI, Lee KY, Park HJ, Kim UK
Genes Genomics 2023 Feb;45(2):225-230. Epub 2023 Jan 11 doi: 10.1007/s13258-022-01357-3. PMID: 36630074

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

Yuan JH, Hashiguchi A, Okamoto Y, Yoshimura A, Ando M, Shiomi K, Saito K, Takahashi M, Ichinose K, Ohmichi T, Ichikawa K, Tadashi A, Takigawa H, Shibayama H, Takashima H
J Hum Genet 2018 Mar;63(3):281-287. Epub 2018 Jan 10 doi: 10.1038/s10038-017-0388-5. PMID: 29321516

Familial clustering and genetic heterogeneity in Meniere's disease.

Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BOR.

Orten DJ, Fischer SM, Sorensen JL, Radhakrishna U, Cremers CW, Marres HA, Van Camp G, Welch KO, Smith RJ, Kimberling WJ
Hum Mutat 2008 Apr;29(4):537-44. doi: 10.1002/humu.20691. PMID: 18220287

Hearing loss in patients with osteogenesis imperfecta. A clinical and audiological study of 201 patients.

Pedersen U
Scand Audiol 1984;13(2):67-74. doi: 10.3109/01050398409043042. PMID: 6463554

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Therapy

Camurati-Engelmann disease--a rare cause of bone pain.

Mundra V, Taxel P
Conn Med 2012 Jan;76(1):33-7. PMID: 22372177

See all (1)

Prognosis

Renal prognosis in Alport's and related syndromes: influence of the mode of inheritance.

Pochet JM, Bobrie G, Landais P, Goldfarb B, Grünfeld JP
Nephrol Dial Transplant 1989;4(12):1016-21. PMID: 2517321

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Clinical prediction guides

Cochlear Implantation in Craniometaphyseal Dysplasia.

Huang AE, Adkins WJ, Patel NS
Otol Neurotol 2020 Mar;41(3):e317-e321. doi: 10.1097/MAO.0000000000002504. PMID: 31834875

Clinical and mutational spectrum of Japanese patients with recessive variants in SH3TC2.

OPA1 analysis in an international series of probands with bilateral optic atrophy.

Liskova P, Tesarova M, Dudakova L, Svecova S, Kolarova H, Honzik T, Seto S, Votruba M
Acta Ophthalmol 2017 Jun;95(4):363-369. Epub 2016 Nov 17 doi: 10.1111/aos.13285. PMID: 27860320

Familial clustering and genetic heterogeneity in Meniere's disease.

Autosomal-dominant giant platelet syndromes: a hint of the same genetic defect as in Fechtner syndrome owing to a similar genetic linkage to chromosome 22q11-13.

Toren A, Rozenfeld-Granot G, Rocca B, Epstein CJ, Amariglio N, Laghi F, Landolfi R, Brok-Simoni F, Carlsson LE, Rechavi G, Greinacher A
Blood 2000 Nov 15;96(10):3447-51. PMID: 11071640

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Hearing loss, autosomal dominant 76(DFNA76)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Molecular resources

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Reviews

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