Diffuse cutaneous mastocytosis: a case report and mutation analysis of the KIT gene
10.3760/cma.j.issn.0412-4030.2014.09.020
- VernacularTitle:泛发性肥大细胞增多症一例及KIT基因突变研究
- Author:
Bin DU
;
Huijun WANG
;
Zhimiao LIN
- Publication Type:Journal Article
- Keywords:
Mastocytosis,cutaneous;
KIT gene;
DNA mutational analysis
- From:
Chinese Journal of Dermatology
2014;47(9):669-670
- CountryChina
- Language:Chinese
-
Abstract:
Objective To analyze KIT gene mutations in one patient with diffuse cutaneous mastocytosis (DCM),and to provide a basis for the prediction of prognosis and selection of treatment.Methods Clinical data were collected from a boy with DCM.Peripheral blood samples were obtained from the patient,his parents and 200 unrelated healthy human controls.PCR was performed to amplify 21 coding exons and their flanking sequences of the KIT gene followed by DNA sequencing.Results A heterozygous missense mutation (c.1526A ＞ T),which leads to the mutation p.Lys509Ile,was detected in the KIT gene of the patient,but not in his parents or the healthy controls.Conclusion The heterozygous missense mutation p.Lys509Ile in the KIT gene may be a cause of DCM.
