AIM: To screen mutations in the ABCB 6 gene in a Chinese family with autosomal dominant coloboma.

METHODS: Recently ABCB 6 mutations have been reported to be associated with isolated coloboma. We collected 5 mL of blood samples from members of a Chinese family with coloboma and 100 normal controls. Mutations in ABCB 6 were determined by sequencing polymerase chain reaction(PCR)products.

RESULTS: We identified a novel mutation(c.1380c>a)in the Chinese family. The mutation co-segregated with the disease phenotype in the patients, while it was not detected in other relatives or in the 100 normal controls.

CONCLUSION:Our results expand the spectrum of ABCB 6 mutations causing ocular coloboma, and further confirm the role of ABCB 6 in the pathogenesis of ocular coloboma.