ESPE Abstracts

Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome (IPEX) is caused by mutations in the Forkhead/winged helix transcription factor (FOXP3) gene and is a rare disorder that increasingly has gained attention as a model of genetic autoimmunity. We report two Chinese families with IPEX and the sequencing of the FOXP3 gene.

Methods: Two unrelated Chinese cases with IPEX were investigated. In case 1, the proband was a 4 month-year-old girl with neonatal type 1 diabetes and severe enteropathy. In case 2, the proband was a 6 day newborn boy who had neonatal type 1 diabetes and ketoacidosis. The venous blood samples of 2 children and their parents were collected and sequenced to detect the mutation of FOXP3 gene coding region.

Results: A novel splice site mutation in intron (c.967+3A>T) was detected in case1. A previously reported, a missense heterozygous mutation in exon 12 (c.1150G>A) was found in case 2.

Conclusions: The thorough investigation of the two cases with IPEX was revealed. A novel splice site mutation in intron (c.967+3A>T) and a missense heterozygous mutation in exon 12 (c.1150G>A) reported in FOXP3 gene were found. FOXP3 gene sequencing helps in IPEX, especially when there is uncertain neonatal diabetes mellitus.