Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Piebaldism

Piebaldism is a disorder of skin pigmentation characterized by hypo- or depigmented skin areas. The disorder may be caused by mutations of the KIT gene.

Systematic

Hereditary dermatological disorders
Epidermolysis bullosa
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
Nephropathy with pretibial epidermolysis bullosa and deafness
Piebaldism
KIT

References:

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: Sept. 26, 2018