Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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
MYH9 assoziierte Erkrankungen
Schwerhörigkeit, nicht-syndromale sensorineurale, X-chromosomale, Typ DFN
Usher-Syndrom

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.

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

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3.

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

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4.

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

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5.

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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6.

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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7.

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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8.

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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9.

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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10.

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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11.

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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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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