Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Autosomal recessive deafness 4 with enlarged vestibular aqueduct

Autosomal recessive deafness 4 with enlarged vestibular aqueduct is a disease caused by mutation in the pendrin (SLC26A4) gene.

Systematic

Hereditary deafness
Alport Syndrome
Autosomal recesive deafness 12
Autosomal recessive deafness 23
Autosomal recessive deafness 4 with enlarged vestibular aqueduct
SLC26A4
Enlarged vestibular aqueduct
Hereditary deafness 97
IVIC syndrome
MYH9 related disorders
Stapes ankylosis with broad thumbs and toes
Usher syndrome
X-linked non-syndromic sensorineural deafness type DFN

References:

1.

Yang T et al. (2007) Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).

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2.

Baldwin CT et al. (1995) Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze population.

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3.

Everett LA et al. (1997) Pendred syndrome is caused by mutations in a putative sulphate transporter gene (PDS).

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4.

Li XC et al. (1998) A mutation in PDS causes non-syndromic recessive deafness.

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5.

Usami S et al. (1999) Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.

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6.

Scott DA et al. (2000) Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).

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7.

Campbell C et al. (2001) Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.

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8.

Tsukamoto K et al. (2003) Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.

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9.

Pryor SP et al. (2005) SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.

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10.

Albert S et al. (2006) SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.

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11.

Hu H et al. (2007) Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese: a unique SLC26A4 mutation spectrum.

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12.

Wang QJ et al. (2007) A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.

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13.

Yang T et al. (2009) Mutations of KCNJ10 together with mutations of SLC26A4 cause digenic nonsyndromic hearing loss associated with enlarged vestibular aqueduct syndrome.

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14.

Jackler RK et al. (1989) The large vestibular aqueduct syndrome.

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15.

Levenson MJ et al. (1989) The large vestibular aqueduct syndrome in children. A review of 12 cases and the description of a new clinical entity.

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16.

None (1983) The large vestibular aqueduct and associated anomalies of the inner ear.

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17.

Okumura T et al. (1995) Sensorineural hearing loss in patients with large vestibular aqueduct.

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18.

Belenky WM et al. (1993) The enlarged vestibular aqueduct syndrome (EVA syndrome).

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19.

Fukushima K et al. (1995) Consanguineous nuclear families used to identify a new locus for recessive non-syndromic hearing loss on 14q.

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20.

Griffith AJ et al. (1996) Familial large vestibular aqueduct syndrome.

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21.

Abe S et al. (1997) Three familial cases of hearing loss associated with enlargement of the vestibular aqueduct.

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22.

Abe S et al. (1999) Fluctuating sensorineural hearing loss associated with enlarged vestibular aqueduct maps to 7q31, the region containing the Pendred gene.

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23.

Choi BY et al. (2009) Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.

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24.

Pourová R et al. (2010) Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).

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25.

OMIM.ORG article

Omim 600791 [^]
Update: April 29, 2019