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Autosomal rezessive Schwerhörigkeit mit vergößertem vestubulärem Aquädukt

Die autosomal rezessive Schwerhörigkeit mit vergößertem vestubulärem Aquädukt ist eine Erkrankung die durch Mutationen im Pendrin, dem SLC26A4-Gen, ausgelöst wird.

Gliederung

Erbliche Schwerhörigkeit
Alport-Syndrom
Autosomal rezessive Schwerhörigkeit 12
Autosomal rezessive Schwerhörigkeit 23
Autosomal rezessive Schwerhörigkeit mit vergößertem vestubulärem Aquädukt
SLC26A4
Erbliche Schwerhörigkeit 97
IVIC-Syndrom
MYH9 assoziierte Erkrankungen
Schwerhörigkeit, nicht-syndromale sensorineurale, X-chromosomale, Typ DFN
Stapesankylose mit breiten Daumen und Zehen
Usher-Syndrom
Vergrößerter Vestibularaquäduct

Referenzen:

1.

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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2.

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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3.

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

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4.

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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5.

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

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6.

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

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7.

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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8.

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

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

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10.

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

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11.

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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12.

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

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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.

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

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15.

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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16.

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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17.

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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18.

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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19.

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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20.

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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21.

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

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22.

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

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23.

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

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24.

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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25.

OMIM.ORG article

Omim 600791 external link
Update: 14. August 2020
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