Links from Gene

Autosomal recessive nonsyndromic hearing loss 103(DFNB103)

MedGen UID:: 863487
•Concept ID:: C4015050
•: Disease or Syndrome

Synonym:	Deafness, autosomal recessive 103

Gene (location): Gene(s) directly associated with this condition or phenotype.	CLIC5 (6p21.1)

Monarch Initiative:	MONDO:0014469
OMIM®:	616042

Definition

Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene. [from MONDO]

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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Abnormal vestibular function

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

An abnormality of the functioning of the vestibular apparatus.

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Vestibular areflexia

MedGen UID:: 863489
•Concept ID:: C4015052
•: Finding

Vestibular areflexia can be measured as the absence of the caloric nystagmus response in electronystagmography.

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Ear malformation

Recent clinical studies

Etiology

Deep analysis of the LRTOMTc.242G>A variant in non-syndromic hearing loss North African patients and the Berber population: Implications for genetic diagnosis and genealogical studies.

Mosrati MA, Fadhlaoui-Zid K, Benammar-Elgaaied A, Gibriel AA, Ben Said M, Masmoudi S
Mol Genet Genomic Med 2021 Oct;9(10):e1810. Epub 2021 Sep 13 doi: 10.1002/mgg3.1810. PMID: 34514748 Free PMC Article

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1).

Cohn ES, Kelley PM, Fowler TW, Gorga MP, Lefkowitz DM, Kuehn HJ, Schaefer GB, Gobar LS, Hahn FJ, Harris DJ, Kimberling WJ
Pediatrics 1999 Mar;103(3):546-50. doi: 10.1542/peds.103.3.546. PMID: 10049954

Nonsyndromic hearing loss: an analysis of audiograms.

Liu X, Xu L
Ann Otol Rhinol Laryngol 1994 Jun;103(6):428-33. doi: 10.1177/000348949410300602. PMID: 8203808

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