title: [Mutation analysis and prenatal diagnosis of a Chinese family with X-linked severe combined immunodeficiency].
abstract: OBJECTIVE
  To analyze the mutation of IL2RG gene in a Chinese family with a birth history of a dead child suspected of X-linked severe combined immunodeficiency (X-SCID), and to perform prenatal diagnosis with DNA sequencing.
  
  
  METHODS
  Blood samples of the parents of the dead child and chorionic villi at gestational age 11 weeks were collected. Eight exons comprising the open reading frame as well as their exon/intron boundaries of IL2RG gene were analyzed by PCR and bi-directional sequencing.
  
  
  RESULTS
  A heterozygous nucleotide substitution c.690C > T (R226C) in exon 5 was detected in the mother, but not in the father. In the second pregnancy of the mother, the mutation of R226C was not detected in the male fetus by prenatal diagnosis, and the heterozygous mutation was detected in the female fetus of the third pregnancy. The reliability of the prenatal genetic diagnosis was confirmed by the one-year follow-up after the neonates were born.
  
  
  CONCLUSIONS
  The mutation of c.690C>T in IL2RG gene may be the pathologic cause of the proband with X-SCID. DNA sequencing combining sex determination is a valid strategy for prenatal diagnosis of X-SCID.
authors.affiliation: Center of Prenatal Diagnosis, the First Affiliated Hospital of Zhengzhou University, Zhengzhou 450052, China.
authors.forename: Qing-hua
authors.initials: QH
authors.lastname: Wu
authors.forename: Hui-rong
authors.initials: HR
authors.lastname: Shi
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.forename: Miao
authors.initials: M
authors.lastname: Jiang
authors.forename: Ning
authors.initials: N
authors.lastname: Lu
authors.forename: Zhen-hua
authors.initials: ZH
authors.lastname: Zhao
authors.forename: Xiang-dong
authors.initials: XD
authors.lastname: Kong
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons / Q000235:genetics; D005260:Female; D006579:Heterozygote; D006801:Humans; D007223:Infant; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D053632:X-Linked Combined Immunodeficiency Diseases / Q000175:diagnosis* / Q000235:genetics*
chemical_list: D017931:DNA Primers; D053631:Interleukin Receptor Common gamma Subunit