【摘 要】
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Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable ocular oscillations.Recently,the FRMD7 gene mutation has been identified as the ge
【机 构】
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Department of Neurology,Second Affiliated Hospital, College of Medicine, Zhejiang University, Hangzh
【出 处】
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中国神经科学学会第四次会员代表大会暨第七届全国学术会议(The 7th Biennial Meeting and the
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Congenital motor nystagmus (CMN) is a relatively common oculomotor disorder characterized by bilateral uncontrollable ocular oscillations.Recently,the FRMD7 gene mutation has been identified as the genetic cause of CMN.The clinical data and the genomic DNA of three Chinese CMN families were collected after the consent inform.Genescan by two-point linkage analysis combined with haplotype analysis was performed and mutation screening was conducted in the FRMD7 gene by direct sequencing.A maximum two-point Lod score of 4.27 at θ =0.00 was obtained with marker DXS8041 in close proximity to the FRMD7 gene on chromosome Xp26.Mutation screening in FRMD7 identified two novel missense mutations (781C>G,886G>C) and one reported nonsense mutation (1003C>T).These nucleotide alterations were neither seen in unaffected members of the families nor in 100 unrelated control subjects.This study widens the mutation spectrum of the FRMD7 gene,and it is the first report of the FRMD7 gene mutations in Chinese population.
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