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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): Gene(s) directly associated with this condition or phenotype.	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.

See: Feature record | Search on this feature

Abnormal vestibular function

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

An abnormality of the functioning of the vestibular apparatus.

See: Feature record | Search on this feature

Ear malformation
- Abnormal vestibular function
- Sensorineural hearing loss disorder

Recent clinical studies

Etiology

Enlarged Vestibular Aqueduct: Hearing Progression and Cochlear Implant Candidacy in Pediatric Patients.

Hodge SE, Thompson NJ, Park LR, Brown KD
Otol Neurotol 2021 Jan;42(1):203-206. doi: 10.1097/MAO.0000000000003034. PMID: 33885268

Coronary artery disease in Alström syndrome.

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: 21897446 Free PMC Article

GJB2 (Cx26) gene mutations in Chinese patients with congenital sensorineural deafness and a report of one novel mutation.

Xiao ZA, Xie DH
Chin Med J (Engl) 2004 Dec;117(12):1797-801. PMID: 15603707

Abnormal audiograms and elevated acoustic reflex thresholds in obligate carriers of autosomal recessive non-syndromic hearing loss.

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

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Diagnosis

Abnormal audiograms and elevated acoustic reflex thresholds in obligate carriers of autosomal recessive non-syndromic hearing loss.

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

See all (1)

Prognosis

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.

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: 34857896 Free PMC Article

Bilateral sudden sensorineural hearing loss caused by Charcot-Marie-Tooth disease.

Papadakis CE, Hajiioannou JK, Kyrmizakis DE, Bizakis JG
J Laryngol Otol 2003 May;117(5):399-401. doi: 10.1258/002221503321626465. PMID: 12803792

Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family: confirmation of autosomal recessive inheritance?

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

See all (3)

Clinical prediction guides

Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss.

See all (1)

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Hearing loss, autosomal recessive 117(DFNB117)

Definition

Clinical features

Recent clinical studies

Etiology

Diagnosis

Prognosis

Clinical prediction guides

Supplemental Content

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Genetic Testing Registry

Clinical resources

Molecular resources

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