AIM: To research the clinical characteristics and identify the disease-causing gene mutation in Chinese patients with Peters syndrome. All these cases will be useful foundations for clinical diagnosis, medical therapy and pathogenesis.

METHODS: Ten congenital corneal opacities affected patients were enrolled from our pediatric and genetic eye clinic. Medical and ophthalmic histories were obtained. Genomic DNA was prepared from venous leukocytes after informed consent conforming was obtained from each participant. The coding regions and the flanking exon-intron junctions of this gene were amplified by polymerase-chain reaction(PCR)and subsequently analyzed by direct sequencing. Variations detected were further evaluated in 100 normal controls by direct sequencing.

RESULTS: One affected individual characterized by systemic changes such as congenital heart anomalies and hearing loss showed the consistent phenotypes with Peters syndrome. Sequence analysis of the PITX2 gene revealed one novel mutation, c. 788G>A. Nucleotide sequence analysis showed that this mutation led to the functional abnormal of this gene, however, no mutation was observed in any unaffected member or 100 normal unrelated individuals.

CONCLUSION: A novel mutation in the PITX2 gene have been identified, this is the first report on a mutation in a Chinese Peters syndrome and the result expand the mutation spectrum of PITX2, further clarify the clinical features of the disease. All these will be useful foundations for clinical diagnosis, medical therapy and pathogenesis.