title: Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2Rγ gene novel mutation.
abstract: We investigated the feasibility of interleukin-2 receptor gamma (IL2Rγ) gene based on gene mutation analysis and pre-natal diagnosis of X-linked severe combined immunodeficiency (X-SCID). Blood samples of patients and their parents of X-SCID (family 1) and X-SCID (family 2) were collected. IL2Rγ gene sequences of the 2 families were analyzed using bi-directional direct sequencing by polymerase chain reaction. DNA sequence changes in the IL2Rγ gene exon region and shear zone were also analyzed. We also sequenced the IL2Rγ gene in 100 healthy individuals. Prenatal genetic diagnoses for a high-risk fetus in family 1 were performed by chorionic villus sampling after determining each family's genotypes. The suspect fe-male in family 1 underwent carrier detection. Two novel mutations of IL2Rγ gene were identified, including c.361-363delGAG (p.E121del) in the patient and his mother in family 1, and c.510-511insGAACT (p.W173X) heterozygous mutation in the proband's mother in family 2. These mutations were absent in the 100 controls. Prenatal diagnosis of early pregnancy in the female fetus of family 1 was performed; the fetus was heterozygous, which was confirmed at postnatal follow-up. The suspect female in family 1 showed no mutation in carrier detection. The novel p.E121del and p.W173X mutations in IL2Rγ may have been the primary causes of disease in 2 families with X-SCID. In couples with an X-SCID reproductive history, prenatal gene mutation analysis of IL2Rγ can effectively prevent the birth of children with X-SCID and carrier detection for suspected females.
authors.affiliation: Center of Prenatal Diagnosis, First Affiliated Hospital, Zhengzhou University, Zhengzhou.
authors.forename: Q L
authors.initials: QL
authors.lastname: Bai
authors.affiliation: Center of Prenatal Diagnosis, First Affiliated Hospital, Zhengzhou University, Zhengzhou.
authors.forename: N
authors.initials: N
authors.lastname: Liu
authors.affiliation: Center of Prenatal Diagnosis, First Affiliated Hospital, Zhengzhou University, Zhengzhou kongxd@263.net.
authors.forename: X D
authors.initials: XD
authors.lastname: Kong
authors.affiliation: Center of Prenatal Diagnosis, First Affiliated Hospital, Zhengzhou University, Zhengzhou.
authors.forename: X J
authors.initials: XJ
authors.lastname: Xu
authors.affiliation: Center of Prenatal Diagnosis, First Affiliated Hospital, Zhengzhou University, Zhengzhou.
authors.forename: Z H
authors.initials: ZH
authors.lastname: Zhao
mesh_terms: D015193:Chorionic Villi Sampling / Q000379:methods*; D004252:DNA Mutational Analysis / Q000379:methods*; D005260:Female; D005315:Fetal Diseases / Q000235:genetics; D006801:Humans; D053631:Interleukin Receptor Common gamma Subunit / Q000235:genetics*; D008297:Male; D009154:Mutation; D010375:Pedigree; D011247:Pregnancy; D053632:X-Linked Combined Immunodeficiency Diseases / Q000235:genetics*
chemical_list: C507941:IL2RG protein, human; D053631:Interleukin Receptor Common gamma Subunit