New KIT mutations in patients with piebaldism

Tomoko Murakami; Kazuyoshi Fukai; Naoki Oiso; Naoko Hosomi; Atsushi Kato; Cheryl Garganta; Angela Barnicoat; Francis Poppelaars; Robert Aquaron; Amy S. Paller; Masamitsu Ishii

doi:10.1016/j.jdermsci.2004.03.003

New KIT mutations in patients with piebaldism

Tomoko Murakami^*, Kazuyoshi Fukai, Naoki Oiso, Naoko Hosomi, Atsushi Kato, Cheryl Garganta, Angela Barnicoat, Francis Poppelaars, Robert Aquaron, Amy S. Paller, Masamitsu Ishii

^*Corresponding author for this work

Dermatology

Research output: Contribution to journal › Article › peer-review

45 Scopus citations

Abstract

Background: Piebaldism is an autosomal dominantly inherited disorder characterized by congenital leukoderma, typically on the forehead, abdomen, and knees. The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism. Objectives: To identify KIT mutations of the family with piebaldism and examine genotype-phenotype correlations in this disorder. Methods: PCR-direct-sequencing technique using genomic DNA from peripheral leukocytes. Results: We have studied 10 individuals within six piebaldism families and able to identify six novel mutations in the KIT gene in patients with piebaldism. These include four frameshift mutations: 142delG, 1768-1769delAG, 2139delC, 2246-2249delAAAG, and two missense mutations: M541L, Y870C. Conclusions: These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.

Original language	English (US)
Pages (from-to)	29-33
Number of pages	5
Journal	Journal of Dermatological Science
Volume	35
Issue number	1
DOIs	https://doi.org/10.1016/j.jdermsci.2004.03.003
State	Published - Jun 2004

Funding

This work was supported by a grant-in-aid from Ministry of Education in Japan #11670846 (to KF). We also thank Professor Richard Spritz for his critical reading and comment.

Keywords

Genotype-phenotype correlation
KIT
Piebaldism

ASJC Scopus subject areas

Dermatology
Molecular Biology
Biochemistry

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10.1016/j.jdermsci.2004.03.003

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title = "New KIT mutations in patients with piebaldism",

abstract = "Background: Piebaldism is an autosomal dominantly inherited disorder characterized by congenital leukoderma, typically on the forehead, abdomen, and knees. The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism. Objectives: To identify KIT mutations of the family with piebaldism and examine genotype-phenotype correlations in this disorder. Methods: PCR-direct-sequencing technique using genomic DNA from peripheral leukocytes. Results: We have studied 10 individuals within six piebaldism families and able to identify six novel mutations in the KIT gene in patients with piebaldism. These include four frameshift mutations: 142delG, 1768-1769delAG, 2139delC, 2246-2249delAAAG, and two missense mutations: M541L, Y870C. Conclusions: These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.",

keywords = "Genotype-phenotype correlation, KIT, Piebaldism",

author = "Tomoko Murakami and Kazuyoshi Fukai and Naoki Oiso and Naoko Hosomi and Atsushi Kato and Cheryl Garganta and Angela Barnicoat and Francis Poppelaars and Robert Aquaron and Paller, {Amy S.} and Masamitsu Ishii",

note = "Funding Information: This work was supported by a grant-in-aid from Ministry of Education in Japan #11670846 (to KF). We also thank Professor Richard Spritz for his critical reading and comment.",

year = "2004",

month = jun,

doi = "10.1016/j.jdermsci.2004.03.003",

language = "English (US)",

volume = "35",

pages = "29--33",

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T1 - New KIT mutations in patients with piebaldism

AU - Murakami, Tomoko

AU - Fukai, Kazuyoshi

AU - Oiso, Naoki

AU - Hosomi, Naoko

AU - Kato, Atsushi

AU - Garganta, Cheryl

AU - Barnicoat, Angela

AU - Poppelaars, Francis

AU - Aquaron, Robert

AU - Paller, Amy S.

AU - Ishii, Masamitsu

N1 - Funding Information: This work was supported by a grant-in-aid from Ministry of Education in Japan #11670846 (to KF). We also thank Professor Richard Spritz for his critical reading and comment.

PY - 2004/6

Y1 - 2004/6

N2 - Background: Piebaldism is an autosomal dominantly inherited disorder characterized by congenital leukoderma, typically on the forehead, abdomen, and knees. The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism. Objectives: To identify KIT mutations of the family with piebaldism and examine genotype-phenotype correlations in this disorder. Methods: PCR-direct-sequencing technique using genomic DNA from peripheral leukocytes. Results: We have studied 10 individuals within six piebaldism families and able to identify six novel mutations in the KIT gene in patients with piebaldism. These include four frameshift mutations: 142delG, 1768-1769delAG, 2139delC, 2246-2249delAAAG, and two missense mutations: M541L, Y870C. Conclusions: These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.

AB - Background: Piebaldism is an autosomal dominantly inherited disorder characterized by congenital leukoderma, typically on the forehead, abdomen, and knees. The leukoderma is usually stable throughout life. KIT mutations have been demonstrated in about 75% of patients with piebaldism. Objectives: To identify KIT mutations of the family with piebaldism and examine genotype-phenotype correlations in this disorder. Methods: PCR-direct-sequencing technique using genomic DNA from peripheral leukocytes. Results: We have studied 10 individuals within six piebaldism families and able to identify six novel mutations in the KIT gene in patients with piebaldism. These include four frameshift mutations: 142delG, 1768-1769delAG, 2139delC, 2246-2249delAAAG, and two missense mutations: M541L, Y870C. Conclusions: These six new mutations are associated with phenotypes that are well in accordance with our knowledge of genotype-phenotype correlations in KIT.

KW - Genotype-phenotype correlation

KW - KIT

KW - Piebaldism

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New KIT mutations in patients with piebaldism

Abstract

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Keywords

ASJC Scopus subject areas

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