Identification of a novel KIT mutation in a Chinese family affected with piebaldism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 637-640, 2016.
Article
in Chinese
| WPRIM
| ID: wpr-345392
ABSTRACT
<p><b>OBJECTIVE</b>To identify the pathogenic mutation underlying piebaldism in a Chinese family.</p><p><b>METHODS</b>A three-generation family showing an autosomal dominant transmission of piebaldism was recruited. Potential mutations of the KIT and SNAI2 genes were detected by PCR-amplification of the exons and exon-intron boundaries and direct sequencing.</p><p><b>RESULTS</b>A heterozygous missense mutation, c.2585T>C, was identified in exon 18 of the KIT gene. The mutation, together with a c.2586G>C polymorphism, has led to substitution of Leucine by Proline at amino acid residue 862 (p.Leu862Pro) of the mast/stem cell growth factor receptor KIT. The same mutation was detected in all affected family members but not in dbSNP142, the 1000 Genomes draft database, or the Human Gene Mutation Database. No mutation of the SNAI2 gene was found.</p><p><b>CONCLUSION</b>The c.2585T>C (p.Leu862Pro) mutation in the KIT gene probably underlies the piebaldism phenotype in this family.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
DNA Mutational Analysis
/
Base Sequence
/
Introns
/
China
/
Polymerase Chain Reaction
/
Exons
/
Family Health
/
Piebaldism
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Female
/
Humans
/
Infant
/
Male
Country/Region as subject:
Asia
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2016
Type:
Article
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