1.
Chinese Journal of Medical Genetics
;
(6): 1191-1194, 2019.
Article
in Chinese
| WPRIM
| ID: wpr-799974
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.