title: [Mutation analyses and prenatal diagnosis in two families of X linked severe combined immunodeficiency caused by IL2RG gene novel mutation].
abstract: OBJECTIVE
  To evaluate the diagnostic feasibility of mutation analysis and prenatal genetic diagnosis genetic analysis of IL2RG gene in two families with a birth history of X-linked severe combined immunodeficiency (X-SCID).
  
  
  METHODS
  Blood samples of a male infant patient of X-SCID and his mother in family 1 and the parents of another deceased child with X-SCID in family 2 from January 2012 to February 2013 were collected.Eight exons comprising IL2RG open reading frame and their exon/intron boundaries were analyzed by bi-directional direct sequencing of polymerase chain reaction (PCR) products. Prenatal genetic diagnoses were performed by chorionic villus sampling after the genotypes of maternal probands were identified in family 1.
  
  
  RESULTS
  Two mutations of IL2RG gene were identified in these two families. The c.361-363delGAG (p.E121del) mutation was identified in family 1. The c.510-511insGAACT (p.W173X) mutation appeared in family 2. The two mutations of c.361-363delGAG (p.E121del) and c.510-511insGAACT (p.W173X) were novel. The two novel mutations were absent in 100 normal controls. The pregnancy in family 1 continued and the infant showed no symptom of X-SCID at 1 year after birth. The aunt (II-3) of proband in family 1 was not a carrier. The female fetus in family 1 had no mutation.
  
  
  CONCLUSIONS
  Two novel mutations of c.361-363delGAG (p.E121del) and c.510-511insGAACT (p.W173X) in IL2RG gene may be a major cause of disease in two families with X-SCID. And direct sequencing of IL2RG gene provides genetic counseling, prenatal diagnosis and carrier screening for families with X-SCID.
authors.affiliation: Center of Prenatal Diagnosis, First Affiliated Hospital, Zhengzhou University, Zhengzhou 450052, China. Email: kongxd@263.net.
authors.forename: Xiangdong
authors.initials: X
authors.lastname: Kong
authors.forename: Ning
authors.initials: N
authors.lastname: Liu
authors.forename: Xueju
authors.initials: X
authors.lastname: Xu
authors.forename: Qinghua
authors.initials: Q
authors.lastname: Wu
authors.forename: Zhenhua
authors.initials: Z
authors.lastname: Zhao
authors.forename: Qiaoling
authors.initials: Q
authors.lastname: Bai
authors.forename: Jingjing
authors.initials: J
authors.lastname: Meng
mesh_terms: D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D011296:Prenatal Diagnosis; D053632:X-Linked Combined Immunodeficiency Diseases / Q000235:genetics*
chemical_list: C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit