斑驳病患者中的新KIT基因突变。
New KIT mutations in patients with piebaldism.
作者信息
Murakami Tomoko, Fukai Kazuyoshi, Oiso Naoki, Hosomi Naoko, Kato Atsushi, Garganta Cheryl, Barnicoat Angela, Poppelaars Francis, Aquaron Robert, Paller Amy S, Ishii Masamitsu
机构信息
Department of Dermatology, Osaka City University Graduate School of Medicine, 1-4-3 Asahimachi Abeno-ku, Osaka 545-8585, Japan.
出版信息
J Dermatol Sci. 2004 Jun;35(1):29-33. doi: 10.1016/j.jdermsci.2004.03.003.
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.
背景
斑驳病是一种常染色体显性遗传性疾病，其特征为先天性白斑，通常出现在前额、腹部和膝盖。白斑在一生中通常保持稳定。约75%的斑驳病患者已证实存在KIT基因突变。
目的
鉴定斑驳病家族的KIT基因突变，并研究该疾病的基因型与表型的相关性。
方法
采用外周血白细胞基因组DNA的聚合酶链反应直接测序技术。
结果
我们研究了6个斑驳病家族中的10名个体，在斑驳病患者中鉴定出KIT基因的6种新突变。这些突变包括4种移码突变：142delG、1768 - 1769delAG、2139delC、2246 - 2249delAAAG，以及2种错义突变：M541L、Y870C。
结论
这6种新突变与表型相关，与我们对KIT基因中基因型 - 表型相关性的认识高度一致。
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