Mutation analyses and prenatal diagnosis in families of X-linked severe combined immunodeficiency caused by IL2R gamma gene novel mutation

作者：Bai Q L; Liu N; Kong X D^*; Xu X J; Zhao Z H

来源：Genetics and Molecular Research, 2015, 14(2): 6164-6172.

DOI：10.4238/2015.June.9.2

• Gene mutation
• Interleukin-2 receptor gamma gene
• Prenatal diagnosis
• X-linked combined immunodeficiency diseases

We investigated the feasibility of interleukin-2 receptor gamma (IL2R gamma) gene based on gene mutation analysis and prenatal 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. IL2R gamma gene sequences of the 2 families were analyzed using bi-directional direct sequencing by polymerase chain reaction. DNA sequence changes in the IL2R gamma gene exon region and shear zone were also analyzed. We also sequenced the IL2R gamma 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 female in family 1 underwent carrier detection. Two novel mutations of IL2R gamma 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 IL2R gamma 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 IL2Rg can effectively prevent the birth of children with X-SCID and carrier detection for suspected females.

• 出版日期2015
• 单位郑州大学