Genetic study of a pedigree affected with oculodentodigital dysplasia
10.3760/cma.j.issn.1003-9406.2019.12.010
- VernacularTitle: 一个眼齿指发育不良家系的基因变异分析
- Author:
Leilei GU
1
;
Yujie ZHU
;
Xiangyu ZHU
;
Jie LI
Author Information
1. Prenatal Diagnosis Center, the Affiliated Drum Tower Hospital of Nanjing University Medical School, Nanjing, Jiangsu 210008, China
- Publication Type:Clinical Trail
- Keywords:
Oculodentodigital dysplasia;
GJA1 gene;
Missense variation
- From:
Chinese Journal of Medical Genetics
2019;36(12):1191-1194
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.
Methods:Genomic DNA was extracted from peripheral blood or amniotic fluid samples derived from the pedigree. Exon 2 of the GJA1 gene was amplified for sequencing.
Results:Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c. 221A>C (p.H74P).
Conclusion:The missense c. 221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.
