NDLI: c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation.

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c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation.

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Year: 2005 Volume: 7 Issue: 1

c-kit Mutations in patients with childhood-onset mastocytosis and genotype-phenotype correlation.

Content Provider	World Health Organization (WHO)-Global Index Medicus
Author	Yanagihori, Hirokatsu Oyama, Noritaka Nakamura, Koichiro Kaneko, Fumio
Description	Country affiliation: Japan Author Affiliation: Yanagihori H ( Department of Dermatology, Fukushima Medical University Graduate School of Medicine, 1-Hikarigaoka, Fukushima 960-1295, Japan. yanagi@fmu.ac.jp)
Abstract	Mastocytosis represents a clonal proliferation of mast cell hematopoietic progenitors caused by gain-of-function mutations of the c-kit gene. The heterogeneity of c-kit mutations may have contributed to difficulties in characterizing genotype-phenotype correlation of the disease. Our goal was to analyze a set of reported pathogenic c-kit mutations in patients with childhood-onset cutaneous mastocytosis, in comparison with those with adult-onset disease, and to correlate these with clinical presentation. We performed polymerase chain reaction and direct sequencing using genomic DNA samples from 16 nonfamilial Japanese patients with indolent cutaneous mastocytosis (12 with childhood-onset disease and 4 with adult-onset disease) to look for the most common c-kit mutations at codons 816, 560, 820, and 839. A substantial number of patients had missense codon 816 mutations (10 of 12 in the childhood-onset group, 83.3%; and 4 of 4 in the adult-onset group, 100%). The most common mutation was Asp816Val (9 of 16, 64.3%) followed by Asp816Phe (5 of 16, 35.7%). Moreover, children with the Asp816Phe mutation developed cutaneous mastocytosis at an earlier age as compared to those with the Asp816Val mutation (mean age of onset, 1.3 months versus 5.9 months, respectively; P = 0.068). No other mutation variations were found in our cohort. In summary, we confirmed a high incidence of two distinct c-kit mutations, Asp816Val and Asp816Phe, in patients with childhood-onset cutaneous mastocytosis. Our results provide new insights into common c-kit mutations, which may contribute to different clinical courses of the disease.
File Format	HTM / HTML
ISSN	15251578
e-ISSN	19437811
Journal	The Journal of Molecular Diagnostics
Issue Number	2
Volume Number	7
Language	English
Publisher	Elsevier
Publisher Date	2005-05-01
Publisher Place	United States
Access Restriction	Open
Subject Keyword	Discipline Molecular Biology Mastocytosis, Cutaneous Genetics Pathology Mutation Proto-oncogene Proteins C-kit Adolescent Cohort Studies Dna Mutational Analysis Genotype Infant Infant, Newborn Phenotype Polymerase Chain Reaction Research Support, Non-u.s. Gov't
Content Type	Text
Resource Type	Article
Subject	Molecular Medicine Pathology and Forensic Medicine

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