%0 Journal Article
%T [Genetic study of a pedigree affected with oculodentodigital dysplasia].
%A Gu L
%A Zhu Y
%A Zhu X
%A Li J
%J Zhonghua Yi Xue Yi Chuan Xue Za Zhi
%V 36
%N 12
%D Dec 2019 10
%M 31813145
暂无%R 10.3760/cma.j.issn.1003-9406.2019.12.010
%X <B>OBJECTIVE: </B>To explore the genetic basis of a pedigree affected with oculodentodigital dysplasia.<BR><B>METHODS: </B>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.<BR><B>RESULTS: </B>Two pedigree members were found to carry heterozygous missense variation of the GJA1 gene, c.221A>C (p.H74P).<BR><B>CONCLUSIONS: </B>The missense c.221A>C variation of the GJA1 gene probably underlies the oculodentodigital dysplasia in this pedigree.