AIM:To explore the genetic defects and prenatal diagnosis of a Chinese family with aniridia and gestational diabetes.

METHODS: We recruited a Chinese family with aniridia and gestational diabetes. Genomic DNA of the whole family individuals was extracted from the peripheral blood leukocytes. Encoding regions of the paired box 6(PAX6)gene was screened by PCR direct sequencing. Amniocentesis was carried out on the affected female at 18wk of gestation, and subsequently, genetics analysis was performed based on the result of mutation screening.

RESULTS: In this study, the patients with aniridia and congenital cataract carried a heterozygous deletion mutation(c.113_129del GGCCGTGCGACATTTCC, p.Arg38ProfsTer12)in exon 5 of PAX6. One of the patients was affected with diabetes while this lady also had gestational diabetes. The result of prenatal diagnosis suggested the fetus carried the same mutation and will be affected with the aniridia, which was confirmed by postpartum follow-up.

CONCLUSION: It was suggested that a reported deletion mutation in the PAX6 was identified again in a Chinese family with aniridia and congenital cataract. It contributed to more literature information for the human PAX6 allelic variant database and provided an analysis basis for prenatal diagnosis.