Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Piebaldismus

Piebaldismus ist eine seltene Störung der Hautpigmentation, die sich durch hypo- und depigmentierte Areale auszeichnet. Ursächlich kommen für diese Störung Mutationen im KIT-Gen in Betracht.

Gliederung

Erbliche Hauterkrankungen
Epidermolysis bullosa
Interstitielle Lungenerkrankung mit nephrotischem Syndrom und Epidemiolysis bullosa
Nephropathie mit prätibialer epidermolysis bullosa und Schwerhörigkeit
Piebaldismus
KIT

Referenzen:

1.

Yamamoto Y et. al. (1989) Interstitial deletion of the proximal long arm of chromosome 4 associated with father-child incompatibility within the Gc-system: probable reduced gene dosage effect and partial piebald trait.

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2.

Giebel LB et. al. (1991) Mutation of the KIT (mast/stem cell growth factor receptor) protooncogene in human piebaldism.

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3.

Spritz RA et. al. (1998) Piebaldism with deafness: molecular evidence for an expanded syndrome.

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4.

Richards KA et. al. (2001) A novel KIT mutation results in piebaldism with progressive depigmentation.

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5.

Lacassie Y et. al. (1977) Piebald trait in a retarded child with interstitial deletion of chromosome 4.

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6.

Farag TI et. al. (1992) A Bedouin kindred with 19 piebalds in 5 generations.

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7.

Winship I et. al. (1991) Piebaldism: an autonomous autosomal dominant entity.

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8.

Geissler EN et. al. (1988) Genetic analysis of the dominant white-spotting (W) region on mouse chromosome 5: identification of cloned DNA markers near W.

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9.

Hultén MA et. al. (1987) Homozygosity in piebald trait.

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10.

Hoo JJ et. al. (1986) Tentative assignment of piebald trait gene to chromosome band 4q12.

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11.

Funderburk SJ et. al. (1974) Dominant piebald trait in a retarded child with a reciprocal translocation and small intercalary deletion.

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12.

Reed WB et. al. (1967) Pigmentary disorders in association with congenital deafness.

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13.

Mahakrishnan A et. al. (1980) Piebaldness with Hirschsprung's disease.

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14.

Sánchez-Martín M et. al. (2003) Deletion of the SLUG (SNAI2) gene results in human piebaldism.

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15.

BIELSCHOWSKY M et. al. (1962) Studies on megacolon in piebald mice.

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16.

Thomas I et. al. (2004) Piebaldism: an update.

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Update: 26. September 2018

 

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