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Autosomal recessive nonsyndromic hearing loss 65(DFNB65)

MedGen UID:
344004
•Concept ID:
C1853248
•
Disease or Syndrome
Synonym: Deafness, autosomal recessive 65
 
Monarch Initiative: MONDO:0012452
OMIM®: 610248

Definition

An autosomal recessive nonsyndromic deafness that has material basis in variation in the chromosome region 20q13.2-q13.3. [from MONDO]

Clinical features

From HPO
Hearing impairment
MedGen UID:
235586
•Concept ID:
C1384666
•
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
See: Feature record | Search on this feature

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article
Effect of GJB2 235delC and 30-35delG genetic polymorphisms on risk of congenital deafness in a Chinese population.
Xiong Y, Zhong M, Chen J, Yan YL, Lin XF, Li X
Genet Mol Res 2017 Feb 8;16(1) doi: 10.4238/gmr16019165. PMID: 28198501

Diagnosis

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM
J Hum Genet 2020 Jan;65(2):187-192. Epub 2019 Oct 28 doi: 10.1038/s10038-019-0691-4. PMID: 31656313Free PMC Article

Clinical prediction guides

Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairment.
Liaqat K, Hussain S, Bilal M, Nasir A, Acharya A, Ali RH, Nawaz S, Umair M, Schrauwen I, Ahmad W, Leal SM
J Hum Genet 2020 Jan;65(2):187-192. Epub 2019 Oct 28 doi: 10.1038/s10038-019-0691-4. PMID: 31656313Free PMC Article
Variations in the Mutational Spectrum in Nonsyndromic Hearing Impairment: A study of the Special Schools for the Deaf in Southern China.
Lin Y, Yu F, Jiao Y, Zhou F
J Int Adv Otol 2019 Aug;15(2):247-252. doi: 10.5152/iao.2019.6512. PMID: 31347505Free PMC Article
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

Supplemental Content

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    Clinical resources

    Reviews

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