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lin li, Qin Shen, XIAODONG JIAO, James F Hejtmancik, Xianqun Fan; Diagnosis strategies of Congenital Fibrosis of the Extraocular Muscles (CFEOM) Families. Invest. Ophthalmol. Vis. Sci. 2018;59(9):2932. doi: https://doi.org/.
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© ARVO (1962-2015); The Authors (2016-present)
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1) is associated with heterozygous mutations in the KIF21A gene. To determine the mutations responsible for the congenital fibrosis of the extraocular muscles type I (CFEOM1) in 13 Chinese families.
Thirteen Chinese families with congenital fibrosis of the extraocular muscles (CFEOM) type 1 were identified by Ophthalmological examinations. Direct sequencing of KIF21A coding exons and adjacent intronic regions were analyzed. Sequence changes were considered pathogenic when they segregated with the disease in the family as well as their absence in 192 ethnically matched control chromosomes.
Of these 13 families subjected to direct sequencing, nine probands showed KIF21A heterozygous mutation, including seven R954W and two R954L mutations. Three of 9 revealed heterozygous (R954W) in affected siblings but not in parents (Haplotype analysis suggested paternal inheritance which consistented with parental germline mosaicism). Overall, mutations were detected in approximately 69.2% (9/13) of CFEOM1 families tested, with one 30.7% (4/13) unidentified.
These results suggest R954 is likely to be the hotspot region of KIF21A in CFEOM type1 Chinese population. In addition, this study demonstrates that R954 region sequencing remains a powerful tool for identifying the genetic defect of CFEOM1 family for both research and clinical applications.
This is an abstract that was submitted for the 2018 ARVO Annual Meeting, held in Honolulu, Hawaii, April 29 - May 3, 2018.
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