A novel mutation of the KIT gene in a Chinese family with piebaldism / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 2325-2328, 2013.
Article
in English
| WPRIM
| ID: wpr-322204
ABSTRACT
<p><b>BACKGROUND</b>Human piebaldism is a rare autosomal dominant condition characterized by congenital white forelock and depigmented patches of skin, typically on the forehead, anterior trunk and extremities. Mutations in the KIT gene have been proposed to be responsible for the underlying changes in this disorder. The aim of this study was to identify gene mutation in a Chinese family with piebaldism.</p><p><b>METHODS</b>A Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen, arms and legs was collected. DNA was isolated from peripheral blood of the family members. The encoding exons with flanking intron regions of the KIT gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing. Besides, DNA extracted from 100 ethnically matched population individuals was as controls.</p><p><b>RESULTS</b>A heterozygous missense mutation c.2590T > C was identified in the patients of the family. This mutation converted a serine residue to proline (p.Ser864Pro). The mutation was not found in their unaffected family members or normal controls.</p><p><b>CONCLUSION</b>A novel missense mutation c.2590 T > C was found and it might play a significant role in the piebaldism phenotype in the family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Physiology
/
Piebaldism
/
Proto-Oncogene Proteins c-kit
/
Mutation, Missense
/
Genetics
Type of study:
Prognostic study
Limits:
Child
/
Humans
/
Male
Language:
English
Journal:
Chinese Medical Journal
Year:
2013
Type:
Article
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