Chen Liyuan, Yu Shanshan, Wu Weiqing, Geng Qian, Luo Fuwei, Xie Jiansheng
Birth Defects Prevention and Control Laboratory, Guangzhou Medical University Affiliated Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518028, P.R. China. Email:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2014 Jun;31(3):285-8. doi: 10.3760/cma.j.issn.1003-9406.2014.03.006.
To identify potential mutations among three sisters from a Chinese family suspected with Cockayne syndrome for growth and psychomotor retardation, and to offer genetic counseling and prenatal diagnosis for the family.
G-banded karyotyping, microarray comparative genomic hybridization (CM-CGH), whole genome exon high-throughput sequencing and Sanger sequencing were employed to identify potential genetic variations for the three patients and their parents.
Whole exome sequencing has identified two novel missense mutations, i.e., c.1595A>G (p.Asp532Gly) and c.1607T>G (p.Leu536Trp), in exon 7 of excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6) gene. Sanger sequencing confirmed that all of the three sisters have inherited one of the mutations (c.1607T>G) from their father and another (c.1595A>G) from their mother.
Three sisters have all been identified as double heterozygote for mutations c.1607T>G and c.1595A>G and were diagnosed with Cockayne syndrome.
在一个疑似患有科凯恩综合征（Cockayne syndrome）且有生长发育和精神运动发育迟缓问题的中国家庭的三姐妹中鉴定潜在突变，并为该家庭提供遗传咨询和产前诊断。
采用G显带核型分析、微阵列比较基因组杂交（CM-CGH）、全基因组外显子高通量测序和桑格测序来鉴定这三名患者及其父母的潜在基因变异。
全外显子测序在切除修复交叉互补啮齿动物修复缺陷互补组6（ERCC6）基因的第7外显子中鉴定出两个新的错义突变，即c.1595A>G（p.Asp532Gly）和c.1607T>G（p.Leu536Trp）。桑格测序证实，这三姐妹均从父亲那里遗传了其中一个突变（c.1607T>G），从母亲那里遗传了另一个突变（c.1595A>G）。
三姐妹均被鉴定为c.1607T>G和c.1595A>G突变的双重杂合子，并被诊断为科凯恩综合征。
