Deafness, Autosomal Recessive 4, with Enlarged Vestibular Aqueduct

Alternative Names

EVA
Deafness, Autosomal Recessive 4
DFNB4
Neurosensory Nonsyndromic Recessive Deafness 4
NSRD4
Dilated Vestibular Aqueduct
DVA

Associated Genes

Solute Carrier Family 26, Member 4

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WHO-ICD-10 version:2010

Diseases of the ear and mastoid process

Other disorders of ear

OMIM Number

600791

Mode of Inheritance

Autosomal recessive

Gene Map Locus

1q23.2,5q35.1,7q22.3

Description

Enlarged vestibular aqueduct (EVA), also known as DFNB4, is the most common form of inner ear abnormality resolved by computed tomography. It is characterized by stepwise progressive sensorineural hearing loss associated with temporal bone abnormalities, ranging from isolated enlargement of the vestibular aqueduct (dilated vestibular aqueduct, DVA) to Mondini dysplasia, a complex malformation in which the normal cochlear spiral of 2(1/2) turns is replaced by a hypoplastic coil of 1(1/2) turns. Thyroid defects are not seen in EVA.

Epidemiology in the Arab World

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Subject ID	Country	Sex	Family History	Parental Consanguinity	HPO Terms	Variant	Zygosity	Mode of Inheritance	Reference	Remarks
600791.1.1	Palestine	Male	Yes	Yes	Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment	NM_000441.1:c.1341+1del	Homozygous	Autosomal, Recessive	Shahin et al. 2010
600791.1.2	Palestine	Male	Yes	Yes	Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment	NM_000441.1:c.1341+1del	Homozygous	Autosomal, Recessive	Shahin et al. 2010	Brother of 600791.1....
600791.1.3	Palestine	Female	Yes		Prelingual sensorineural hearing impairm... Prelingual sensorineural hearing impairment	NM_000441.1:c.1341+1del	Homozygous	Autosomal, Recessive	Shahin et al. 2010	Paternal aunt of 600...
600791.2.1	United Arab Emirates	Female	Yes	Yes	Severe hearing impairment Severe hearing impairment	NM_000441.2:c.716T>A	Homozygous	Autosomal, Recessive	Chouchen et al. 2021	Proband
600791.2.2	United Arab Emirates	Female	Yes	Yes	Severe hearing impairment Severe hearing impairment	NM_000441.2:c.716T>A	Homozygous	Autosomal, Recessive	Chouchen et al. 2021	Sibling of proband
600791.2.3	United Arab Emirates	Male	Yes	Yes	Severe hearing impairment Severe hearing impairment	NM_000441.2:c.716T>A	Homozygous	Autosomal, Recessive	Chouchen et al. 2021	Sibling of proband
600791.2.4	United Arab Emirates	Male	Yes	Yes	Severe hearing impairment Severe hearing impairment	NM_000441.2:c.716T>A	Homozygous	Autosomal, Recessive	Chouchen et al. 2021	Sibling of proband
600791.3	United Arab Emirates	Unknown			Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment	NM_000441.2:c.1211C>T, NM_000441.2:c.2174_2177dup	Compound heterozygous	Autosomal, Recessive	Elsayed O and Al-Shamsi A. 2022	Subject with compoun...
600791.4	United Arab Emirates	Unknown			Congenital sensorineural hearing impairm... Congenital sensorineural hearing impairment	NM_000441.2:c.1150G>C	Homozygous	Autosomal, Recessive	Elsayed O and Al-Shamsi A. 2022
600791.5	Comoros	Female	Yes	Yes	Sensorineural hearing impairment Sensorineural hearing impairment	NM_000441.2:c.716T>A	Homozygous	Autosomal, Recessive	Ali et al. 2024	Patient from 'family...
600791.6.1	United Arab Emirates	Male	Yes	Yes	Sensorineural hearing impairment Sensorineural hearing impairment	NM_000441.2:c.716T>A	Homozygous	Autosomal, Recessive	Ali et al. 2024	Patient from 'family...
600791.6.2	United Arab Emirates	Male	Yes	No	Sensorineural hearing impairment Sensorineural hearing impairment	NM_000441.2:c.716T>A	Homozygous	Autosomal, Recessive	Ali et al. 2024	Father of 600791.6.1

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Other Reports

Lebanon

Saliba et al. (2000) described the case of a 40-year-old woman admitted for severe purulent meningitis and sub-coma secondary to a left mastoiditis with mixed hearing loss on the left side and complete deafness on the right side

External Links

https://www.ncbi.nlm.nih.gov/books/NBK1434/

Contributors

Asha Deepthi: 22.08.2024
Sami Bizzari: 24.01.2022
Ghazi O. Tadmouri: 28.11.2011
Tasneem Obeid: 18.10.2011
Tasneem Obeid: 15.09.2011

Edit History

Asha Deepthi: 22.08.2024
Sami Bizzari: 24.01.2022
Sami Bizzari: 29.12.2020
Sami Bizzari: 27.12.2020
Sayeeda Hana: 11.08.2020
Asha Deepthi: 09.02.2020
Tasneem Obeid: 29.12.2011
Pratibha Nair: 30.11.2011