A novel mutation of GLI3 gene underlying synpolydactyly in a family.
- Author:
Ranran KANG
1
,
2
,
3
;
Sexin HUANG
;
Jie LI
;
Yang ZOU
;
Peiwen XU
;
Ming GAO
;
Lijuan WANG
;
Hongqiang XIE
;
Junhao YAN
;
Yuan GAO
Author Information
- Publication Type:Journal Article
- MeSH: Adolescent; Adult; Amino Acid Sequence; Female; Humans; Male; Middle Aged; Mutation; genetics; Nerve Tissue Proteins; genetics; Pedigree; Syndactyly; genetics; Zinc Finger Protein Gli3; genetics
- From: Chinese Journal of Medical Genetics 2017;34(4):490-493
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo detect mutation of GLI3 gene in a family affected with autosomal dominant synpolydactyly.
METHODSGenomic DNA was extracted from peripheral blood samples from members of the family and 100 unrelated healthy controls. Potential mutation was screened by next-generation sequencing and confirmed by Sanger sequencing.
RESULTSA heterozygous frameshift mutation c.480dupC was identified in the GLI3 gene among all patients from the family. The same mutation was not found in unaffected family members and the 100 healthy controls.
CONCLUSIONThe c.480dupC of the GLI3 gene probably underlies the synpolydactyly in this family.
