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Objective To determine the pathogenic mutant gene and the classification for 2 Chinese families with congenital fibrosis of the extraocular muscles (CFEOM) by using candidate genes methods.Methyls All members in the 2 Chinese families with CFEOM were collected and underwent for clinical data collection,including medical history,physical examination and 5-8 mL peripheral venous blood for DNA extraction.Exon 2,8,20,21 of KIF21A,exon 1,2,3 of PHOX2A/ARIX,exon 1,2,3,and 4 of TUBB2B and exon 1,2,3,4 of TUBB3 were selected and synthesized by PCR,and the amplified samples were purified for sequences analysis by Chromas2.3 and DNAman7.0 software.Results There were 9 members developed CFEOM in family 1,with the typical CFEOM characteristics.The mutation site was located in KIF21A (exon 21),2860C ＞ T;and 4 patients in family 2 suffered this disease,and the typical CFEOM appearance features was in 3 patients.The mutation site was located in TBUU3 (exon 4),1249 G ＞ A.Conclusion The candidate genes methods can be used to identify the pathogenic genes of pedigrees with inherited diseases effectively.Family 1 belongs to CFEOM 1A type,which is the autosomal dominant inheritance with complete penetrance,and family 2 belongs to CFEOM 3A type,whivh is the autosomal dominant inheritance with incomplete penetrance.
RESUMO
AIM:To study the KIF21A gene mutation in a Han family with concomitant exotropia. ·METHODS: The genomic DNA of five family members was extracted from peripheral blood leukocytes and amplified with PCR. The PCR products were purified for DNA sequencing. DNA sequences were aligned with the human KIF21A gene sequences registered in GenBank. · RESULTS: Mutation analysis of all exons of the pedigree's KIF21A gene reveals no gene mutation in any of the families. ·CONCLUSION: Our study demonstrates that the KIF21A gene maybe is not virulence gene in this pedigree.