Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Schwerhörigkeit, nicht-syndromale sensorineurale, X-chromosomale, Typ DFN

Eine x-chromosomale nicht syndromale Schwerhörigkeit wird durch Mutationen im PRPS1 hervorgerufen.

Gliederung

Erbliche Schwerhörigkeit
Alport-Syndrom
Autosomal rezessive Schwerhörigkeit 12
Autosomal rezessive Schwerhörigkeit 23
Autosomal rezessive Schwerhörigkeit mit vergößertem vestubulärem Aquädukt
IVIC-Syndrom
MYH9 assoziierte Erkrankungen
Schwerhörigkeit, nicht-syndromale sensorineurale, X-chromosomale, Typ DFN
PRPS1
Usher-Syndrom

Referenzen:

1.

Tyson J et. al. (1996) Mapping of DFN2 to Xq22.

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2.

Manolis EN et. al. (1999) Hereditary postlingual sensorineural hearing loss mapping to chromosome Xq21.

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3.

Cui B et. al. (2004) Refinement of the locus for non-syndromic sensorineural deafness (DFN2).

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4.

Liu X et. al. (2010) Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

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5.

Synofzik M et. al. (2014) X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

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6.

Robusto M et. al. (2015) The expanding spectrum of PRPS1-associated phenotypes: three novel mutations segregating with X-linked hearing loss and mild peripheral neuropathy.

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7.

Almoguera B et. al. (2014) Expanding the phenotype of PRPS1 syndromes in females: neuropathy, hearing loss and retinopathy.

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8.

Wellesley D et. al. (1992) A new form of X-linked, high-frequency, sensorineural deafness.

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9.

Reardon W et. al. (1991) A multipedigree linkage study of X-linked deafness: linkage to Xq13-q21 and evidence for genetic heterogeneity.

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10.

None (1990) Sex linked deafness: Wilde revisited.

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11.

McRae KN et. al. (1969) Sex-linked congenital deafness.

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12.

None (1965) Sex-linked recessive congenital deafness and the excess of males in profound childhood deafness.

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13.

Lalwani AK et. al. (1994) A new nonsyndromic X-linked sensorineural hearing impairment linked to Xp21.2.

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14.

None (2000) Genetic causes of hearing loss.

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15.

None (1958) Congenital deafness due to a sex-linked recessive gene.

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16.

None (1963) Sex-linked deaf-mutism.

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17.

SATALOFF J et. al. (1955) Sex-linked hereditary deafness.

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18.

Petersen MB et. al. (2008) Sex-linked deafness.

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