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[R954 mutations in KIF21A gene in Chinese patients with congenital fibrosis of extraocular muscles]
Ning-dong Li1, Jun Zhao, Li-ming Wang
1Ophthalmic College of Tianjin Medical University, Tianjin Eye Hospital, Tianjin Eye Institute, Tianjin Key Lab of Ophthalmology and Visual Science, Tianjin 300020, China.
Objective:
Screening KIF21A gene mutation in 9 families with congenital fibrosis of extraocular muscles and 7 sporadic cases.
Methods:
Families were ascertained and patients underwent complete ophthalmological examinations. The probands of 9 families with CFEOM and 7 sporadic patients were recruited for this study after informed consent. Genomic DNA was isolated from 5 ml peripheral blood samples according to the standard methods. Direct sequencing was performed after PCR amplification to genomic DNA for detection of KIF21A gene mutation.
Results:
We identified heterozygous KIF21A mutations in 14 of sixteen patients. Twelve of them harbor the most common mutation, c.2860C > T (p.R954W) and two of them harbor the second most common mutation, c2861G > A(p.R954Q). The R954 mutations account for 87.5% (14/16), in which 75% (12/16) are R954W, 12.5% (2/16) are R954Q.
Conclusion:
The R954 mutations are also hotspots in Chinese patients with CFEOM.
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