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Autosomal recessive nonsyndromic hearing loss 67(DFNB67)

MedGen UID:: 343997
•Concept ID:: C1853223
•: Disease or Syndrome

Synonyms:	Deafness, autosomal recessive 67; DFNB67 Nonsyndromic Hearing Loss and Deafness

Gene (location): Gene(s) directly associated with this condition or phenotype.	LHFPL5 (6p21.31)

Monarch Initiative:	MONDO:0012460
OMIM®:	610265

Definition

Autosomal recessive deafness-67 (DFNB67) is characterized by congenital bilateral severe to profound sensorineural deafness, with or without vestibular dysfunction (Shabbir et al., 2006; Kalay et al., 2006; Lerat 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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Bilateral sensorineural hearing impairment

MedGen UID:: 96788
•Concept ID:: C0452138
•: Disease or Syndrome

A bilateral form of sensorineural hearing impairment.

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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 fundus morphology

MedGen UID:: 871316
•Concept ID:: C4025804
•: Anatomical Abnormality

Any structural abnormality of the fundus of the eye.

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Abnormality of the eye
- Abnormal fundus morphology
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
  - Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    - Autosomal recessive nonsyndromic hearing loss 67

Recent clinical studies

Etiology

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

Riza AL, Alkhzouz C, Farcaș M, Pîrvu A, Miclea D, Mihuț G, Pleșea RM, Ștefan D, Drodar M, Lazăr C, On Behalf Of The Hint Study, On Behalf Of The Fuse Study, Ioana M, Popp R
Genes (Basel) 2022 Dec 26;14(1) doi: 10.3390/genes14010069. PMID: 36672810 Free PMC Article

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443

Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human Deafness.

Rehman AU, Bird JE, Faridi R, Shahzad M, Shah S, Lee K, Khan SN, Imtiaz A, Ahmed ZM, Riazuddin S, Santos-Cortez RL, Ahmad W, Leal SM, Riazuddin S, Friedman TB
Hum Mutat 2016 Oct;37(10):991-1003. Epub 2016 Aug 21 doi: 10.1002/humu.23042. PMID: 27375115 Free PMC Article

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.

Ahmed ZM, Yousaf R, Lee BC, Khan SN, Lee S, Lee K, Husnain T, Rehman AU, Bonneux S, Ansar M, Ahmad W, Leal SM, Gladyshev VN, Belyantseva IA, Van Camp G, Riazuddin S, Friedman TB, Riazuddin S
Am J Hum Genet 2011 Jan 7;88(1):19-29. Epub 2010 Dec 23 doi: 10.1016/j.ajhg.2010.11.010. PMID: 21185009 Free PMC Article

GJB2 mutations and degree of hearing loss: a multicenter study.

Snoeckx RL, Huygen PL, Feldmann D, Marlin S, Denoyelle F, Waligora J, Mueller-Malesinska M, Pollak A, Ploski R, Murgia A, Orzan E, Castorina P, Ambrosetti U, Nowakowska-Szyrwinska E, Bal J, Wiszniewski W, Janecke AR, Nekahm-Heis D, Seeman P, Bendova O, Kenna MA, Frangulov A, Rehm HL, Tekin M, Incesulu A, Dahl HH, du Sart D, Jenkins L, Lucas D, Bitner-Glindzicz M, Avraham KB, Brownstein Z, del Castillo I, Moreno F, Blin N, Pfister M, Sziklai I, Toth T, Kelley PM, Cohn ES, Van Maldergem L, Hilbert P, Roux AF, Mondain M, Hoefsloot LH, Cremers CW, Löppönen T, Löppönen H, Parving A, Gronskov K, Schrijver I, Roberson J, Gualandi F, Martini A, Lina-Granade G, Pallares-Ruiz N, Correia C, Fialho G, Cryns K, Hilgert N, Van de Heyning P, Nishimura CJ, Smith RJ, Van Camp G
Am J Hum Genet 2005 Dec;77(6):945-57. Epub 2005 Oct 19 doi: 10.1086/497996. PMID: 16380907 Free PMC Article

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Diagnosis

Non-Syndromic Hearing Loss in a Romanian Population: Carrier Status and Frequent Variants in the GJB2 Gene.

Comprehensive Molecular Screening in Chinese Usher Syndrome Patients.

Sun T, Xu K, Ren Y, Xie Y, Zhang X, Tian L, Li Y
Invest Ophthalmol Vis Sci 2018 Mar 1;59(3):1229-1237. doi: 10.1167/iovs.17-23312. PMID: 29625443

Identification of TMPRSS3 as a Significant Contributor to Autosomal Recessive Hearing Loss in the Chinese Population.

Gao X, Huang SS, Yuan YY, Xu JC, Gu P, Bai D, Kang DY, Han MY, Wang GJ, Zhang MG, Li J, Dai P
Neural Plast 2017;2017:3192090. Epub 2017 Jun 13 doi: 10.1155/2017/3192090. PMID: 28695016 Free PMC Article

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.

Bakhchane A, Bousfiha A, Charoute H, Salime S, Detsouli M, Snoussi K, Nadifi S, Kabine M, Rouba H, Dehbi H, Roky R, Charif M, Barakat A
Eur J Med Genet 2016 Jun;59(6-7):325-9. Epub 2016 May 8 doi: 10.1016/j.ejmg.2016.05.002. PMID: 27169813

GJB2 mutations and degree of hearing loss: a multicenter study.

See all (5)