title: [Genetic analysis for a family with Cockayne syndrome].
abstract: OBJECTIVE
  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.
  
  
  METHODS
  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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  Three sisters have all been identified as double heterozygote for mutations c.1607T>G and c.1595A>G and were diagnosed with Cockayne syndrome.
authors.affiliation: Birth Defects Prevention and Control Laboratory, Guangzhou Medical University Affiliated Shenzhen Maternity and Child Healthcare Hospital, Shenzhen, Guangdong 518028, P.R. China. Email: jianshengxie2000@aliyun.com.
authors.forename: Liyuan
authors.initials: L
authors.lastname: Chen
authors.forename: Shanshan
authors.initials: S
authors.lastname: Yu
authors.forename: Weiqing
authors.initials: W
authors.lastname: Wu
authors.forename: Qian
authors.initials: Q
authors.lastname: Geng
authors.forename: Fuwei
authors.initials: F
authors.lastname: Luo
authors.forename: Jiansheng
authors.initials: J
authors.lastname: Xie
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002675:Child, Preschool; D003057:Cockayne Syndrome / Q000175:diagnosis / Q000235:genetics*; D004265:DNA Helicases / Q000235:genetics*; D045643:DNA Repair Enzymes / Q000235:genetics*; D005091:Exons; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D010375:Pedigree; D017354:Point Mutation; D000075223:Poly-ADP-Ribose Binding Proteins
chemical_list: D000075223:Poly-ADP-Ribose Binding Proteins; D004265:DNA Helicases; C078673:ERCC6 protein, human; D045643:DNA Repair Enzymes