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Hearing loss, autosomal recessive 117(DFNB117)

MedGen UID:
1747842
Concept ID:
C5436937
Disease or Syndrome
Synonym: Deafness, autosomal recessive 117
 
Gene (location): CLRN2 (4p15.32)
 
Monarch Initiative: MONDO:0030905
OMIM®: 619174

Definition

Autosomal recessive deafness-117 (DFNB117) is characterized by nonsyndromic bilateral moderate-to-profound sensorineural deafness, with onset in early childhood (Vona et al., 2021). [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.
Abnormal vestibular function
MedGen UID:
334848
Concept ID:
C1843865
Finding
An abnormality of the functioning of the vestibular apparatus.

Recent clinical studies

Etiology

Hodge SE, Thompson NJ, Park LR, Brown KD
Otol Neurotol 2021 Jan;42(1):203-206. doi: 10.1097/MAO.0000000000003034. PMID: 33885268
Jatti K, Paisey R, More R
Eur J Hum Genet 2012 Jan;20(1):117-8. Epub 2011 Sep 7 doi: 10.1038/ejhg.2011.168. PMID: 21897446Free PMC Article
Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707
Cohen M, Francis M, Coffey R, Pembrey ME, Luxon LM
Acta Otolaryngol 1997 May;117(3):337-42. doi: 10.3109/00016489709113404. PMID: 9199518

Diagnosis

Cohen M, Francis M, Coffey R, Pembrey ME, Luxon LM
Acta Otolaryngol 1997 May;117(3):337-42. doi: 10.3109/00016489709113404. PMID: 9199518

Prognosis

Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF
Eur J Hum Genet 2022 Jan;30(1):34-41. Epub 2021 Dec 3 doi: 10.1038/s41431-021-01010-9. PMID: 34857896Free PMC Article
Papadakis CE, Hajiioannou JK, Kyrmizakis DE, Bizakis JG
J Laryngol Otol 2003 May;117(5):399-401. doi: 10.1258/002221503321626465. PMID: 12803792
Mégarbané A, Desguerres I, Rizkallah E, Delague V, Nabbout R, Barois A, Urtizberea A
Am J Med Genet 2000 May 15;92(2):117-21. doi: 10.1002/(sici)1096-8628(20000515)92:2<117::aid-ajmg7>3.0.co;2-c. PMID: 10797435

Clinical prediction guides

Vaché C, Baux D, Bianchi J, Baudoin C, Faugère V, Francannet C, Koenig M, Kalatzis V, Roux AF
Eur J Hum Genet 2022 Jan;30(1):34-41. Epub 2021 Dec 3 doi: 10.1038/s41431-021-01010-9. PMID: 34857896Free PMC Article

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