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Autosomal recessive nonsyndromic hearing loss 53(DFNB53)

MedGen UID:
400602
Concept ID:
C1864746
Disease or Syndrome
Synonym: Deafness, autosomal recessive 53
 
Gene (location): COL11A2 (6p21.32)
 
Monarch Initiative: MONDO:0012333
OMIM®: 609706

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene. [from MONDO]

Clinical features

From HPO
Sensorineural hearing impairment
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.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  

Recent clinical studies

Etiology

Yen TT, Chen IC, Cho S, Chang TG, Shih KH, Hua MW, Li JL, Hsu CY, Hsiao TH, Chen YM
Ear Hear 2023 Nov-Dec 01;44(6):1423-1429. Epub 2023 Jun 5 doi: 10.1097/AUD.0000000000001384. PMID: 37271870
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: 21185009Free PMC Article

Diagnosis

Van Heurck R, Carminho-Rodrigues MT, Ranza E, Stafuzza C, Quteineh L, Gehrig C, Hammar E, Guipponi M, Abramowicz M, Senn P, Guinand N, Cao-Van H, Paoloni-Giacobino A
Genes (Basel) 2021 Aug 20;12(8) doi: 10.3390/genes12081277. PMID: 34440452Free PMC Article
Zhao J, Yuan Y, Huang S, Huang B, Cheng J, Kang D, Wang G, Han D, Dai P
PLoS One 2014;9(11):e108134. Epub 2014 Nov 5 doi: 10.1371/journal.pone.0108134. PMID: 25372295Free PMC Article

Clinical prediction guides

Ansar M, Din MA, Arshad M, Sohail M, Faiyaz-Ul-Haque M, Haque S, Ahmad W, Leal SM
Eur J Hum Genet 2003 Jan;11(1):77-80. doi: 10.1038/sj.ejhg.5200905. PMID: 12529709Free PMC Article

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