Identification of novel KIT gene mutations in two Chinese families with piebaldism / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 385-388, 2013.
Article
在 Zh
| WPRIM
| ID: wpr-237243
Responsible library:
WPRO
ABSTRACT
<p><b>OBJECTIVE</b>To screen for potential mutations of KIT gene for two Chinese families affected with piebaldism in order to facilitate genetic counseling and assisted reproduction.</p><p><b>METHODS</b>Peripheral blood samples were collected from 2 patients of family 1 and the proband and 3 unaffected members of family 2 for the extraction of DNA and RNA. PCR-sequencing and reverse transcription PCR-sequencing were used to screen KIT mutations.</p><p><b>RESULTS</b>All of the patients from family 1 were found to carry heterozygous IVS12+2-+7delinsACATCTTTA, a splicing mutation undocumented in the human gene mutation data base (HGMD) database. This mutation has resulted in c.1765-1779del in cDNA and p.Gly592Ala/del:E12, which has led to skipping of exon 12 and no expression of cDNA. The proband from family 2 has carried a heterozygous c.2401A>C mutation in KIT gene. The same mutation was not found in unaffected members.</p><p><b>CONCLUSION</b>We have attained definite diagnosis for both families, which has facilitated genetic counseling and assisted reproduction for our patients and their family members.</p>
全文:
1
索引:
WPRIM
主要主题:
Pedigree
/
Molecular Sequence Data
/
Base Sequence
/
China
/
Frameshift Mutation
/
Piebaldism
/
Point Mutation
/
Proto-Oncogene Proteins c-kit
/
Asian People
/
Genetics
研究类型:
Prognostic_studies
限制:
Adult
/
Child
/
Female
/
Humans
/
Male
国家/地区名称主题:
Asia
语言:
Zh
期刊:
Chinese Journal of Medical Genetics
年:
2013
类型:
Article