Novel mutations of the FRMD7 gene in X-linked congenitalmotor nystagmus

[摘要] Purpose: Congenital motor nystagmus (CMN) is a relatively commonoculomotor disorder characterized by bilateral uncontrollable ocularoscillations. Recently, the FRMD7 gene mutation has been identifiedas the genetic cause of CMN. The purpose of this study was to identifymutations of the FRMD7 gene in Chinese patients with CMN.Methods: Clinical data and genomic DNA of three Chinese CMN familieswere collected after informed consent. Genescan by two-point linkageanalysis combined with haplotype analysis was performed and mutationscreening of the FRMD7 gene was conducted by direct sequencing.Results: Maximum two-point LOD scores of 2.00, 1.76, and 1.16 atθ=0.00 were obtained with markers in proximity to the FRMD7gene on chromosome Xp26 in the three CMN families. Mutation screening inthe FRMD7 gene identified two novel missense mutations (c.781C>Gand c.886G>C) and one reported nonsense mutation (c.1003C>T).These nucleotide alterations were not seen in unaffected members of thefamilies or in 100 unrelated control subjects.Conclusions: This study widens the mutation spectrum of theFRMD7 gene.

[学科分类] 生物化学/生物物理