KIF21A Mutations in Two Chinese Families with Congenital Fibrosis of the Extraocular Muscles (CFEOM)

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KIF21A Mutations in Two Chinese Families with Congenital Fibrosis of the Extraocular Muscles (CFEOM)

Show simple item record Yang, Xian Yamada, Koki Katz, Bradley Guan, Hongzai Wang, Lifei Zhao, Guiqiu Chen, Haoyu Tong, Zongzhong Kong, Jie Hu, Cong Kong, Qinglan Fan, Guiyun Ning, Meizhen Zhang, Shaoyan Xu, Jinling Zhang, Kang Andrews, Caroline Engle, Elizabeth Carson Wang, Ze 2012-02-24T00:16:31Z 2010
dc.identifier.citation Yang, Xian, Koki Yamada, Bradley Katz, Hongzai Guan, Lifei Wang, Caroline Andrews, Guiqiu Zhao, et al. 2010. KIF21A mutations in two Chinese families with congenital fibrosis of the extraocular muscles (CFEOM). Molecular Vision 16: 2062-2070. en_US
dc.identifier.issn 1090-0535 en_US
dc.description.abstract Purpose: Two Chinese families (XT and YT) with congenital fibrosis of the extraocular muscles (CFEOM) were identified. The purpose of this study was to determine if previously described Homo sapiens kinesin family member 21A (KIF21A) mutations were responsible for CFEOM in these two Chinese pedigrees. Methods: Clinical characterization and genetic studies were performed. Microsatellite genotyping for linkage to the CFEOM1 and CFEOM3 loci was performed. The probands were screened for KIF21A mutations by bidirectional direct sequencing. Once a mutation was detected in the proband, all other participating family members and 100 unrelated control normal individuals were screened for the mutation. Results: All affected individuals in family XT shared the common manifestations of CFEOM1. Family YT had two affected individuals, a mother and a daughter. The daughter had CFEOM1, while her mother never had congential ptosis but did have limited extraocular movements status post strabismus surgery. Haplotype analysis revealed that pedigree XT was linked to the 12q CFEOM1 locus and the affected memberes harbored the second most common missense mutation in KIF21A (2,861G>A, R954Q). Family YT harbored the most common missense de novo mutation in KIF21A (2,860C>T, R954W). Both of these mutations have been previously described. Conclusions: The observation of these two KIF21A mutations in a Chinese pedigree underscores the homogeneity of these mutations as a cause of CFEOM1 and CFEOM3 across ethnic divisions. en_US
dc.language.iso en_US en_US
dc.publisher Molecular Vision en_US
dc.relation.isversionof en_US
dc.relation.hasversion en_US
dash.license LAA
dc.title KIF21A Mutations in Two Chinese Families with Congenital Fibrosis of the Extraocular Muscles (CFEOM) en_US
dc.type Journal Article en_US
dc.description.version Version of Record en_US
dc.relation.journal Molecular Vision en_US Engle, Elizabeth Carson 2012-02-24T00:16:31Z
dash.affiliation.other HMS^Neurology-Children's Hospital en_US
dash.affiliation.other HMS^Ophthalmology en_US

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