Liu Ning, Shi Hui-rong, Wu Qing-hua, Jiang Miao, Kong Xiang-dong
Prenatal Diagnosis Center, the First Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, P. R.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):407-9. doi: 10.3760/cma.j.issn.1003-9406.2013.04.006.
To analyze GJB6 gene mutations in a Chinese family with hidrotic ectodermal dysplasia and to provide first-trimester prenatal diagnosis for a fetus.
Mutation scanning was carried out with PCR and bilateral direct sequencing in 2 affected and 6 unaffected individuals from the family. After the mutation was confirmed, prenatal diagnosis was performed on chorionic villi samples obtained at 11th gestational week.
A heterozygous missense mutation c.31G>A of the GJB6 gene was discovered in all of the patients, which has led to substitution of glycine by arginine at codon 11 (p.G11R) at the N-terminal of the GJB6 protein. Prenatal diagnosis indicated that the fetus had also carried the same p.G11R mutation. Following termination of the pregnancy, analysis of the aborted tissues was consistent with prenatal diagnosis.
The missense mutation c.31G>A(p.G11R) of the GJB6 gene probably underlies the disease in this family. Prenatal diagnosis with DNA sequencing can facilitate genetic counseling of this family.
分析一个患有汗孔角化性外胚层发育不良的中国家系中的GJB6基因突变情况，并为一名胎儿提供孕早期产前诊断。
对该家系中的2名患者和6名未患病个体进行PCR及双向直接测序，以扫描突变情况。在确认突变后，对孕11周时获取的绒毛样本进行产前诊断。
在所有患者中均发现了GJB6基因的杂合错义突变c.31G>A，该突变导致GJB6蛋白N端第11位密码子处的甘氨酸被精氨酸替代（p.G11R）。产前诊断表明胎儿也携带相同的p.G11R突变。终止妊娠后，对流产组织的分析与产前诊断结果一致。
GJB6基因的错义突变c.31G>A（p.G11R）可能是该家系疾病的病因。DNA测序进行产前诊断有助于该家系的遗传咨询。
