Mutation analysis of ZNF644 in a Chinese Han family with high myopia

OBJECTIVE:Mutation in ZNF644 gene has been shown to be responsible for high myopia in a Chinese Han family(Sichuan).This present study was conducted to investigate whether ZNF644 is associated with high myopia in another Chinese Han family(Hunan).METHODS:The clinical data and genome DNA of five patients and two unaffected relatives of the family were collected with.Six exons of ZNF644,including intron/exon boundaries,were amplified by polymerase chain reaction(PCR) and the PCR products were subjected to automatic DNA sequencing. RESULTS:Five patients within the family were diagnosed with high myopia(refractive errors≥6.OOD) and some also showed detachment of retina or cataract.The visual acuity of the other relatives was normal and the family showed monogenic high myopia with a autosomal dominant inheritance model.Six SNP polymorphisms were found in this pedigree,which did not co-segregate with the disease phenotype in this family.CONCLUSION:Mutation in exons of ZNF644 is excluded as a pathogenic cause for high myopia,in this family.