Mutations analysis of FRMD7 gene in idiopathic congenital nystagmus families / 中华实验眼科杂志

Objective@#To reveal the pathogenic mutations in Chinese families with idiopathic congenital nystagmus(ICN)@*Methods@#Six families with ICN were recruited from Subei People's Hospital.DNA was extracted from peripheral blood samples of all participants.All coding and exon-intronic boundary regions of the targeted gene FRMD7 were amplified with PCR and sequenced using Sanger sequencing to detect potential pathogenic mutations.This study followed the Helsinki Declaration and was approved by the Ethics Committee of Subei People's Hospital (NO.2015KY-126). All patients or their guardians signed informed consent.@*Results@#Three mutations (c.902A>G, c.1944T>A and 1945G>T) were screened in two families after co-segregation validation of intrafamilial genotype-phenotype, c.1944T>A and 1945G>T were newly detected mutations which were not detected in 100 normal controls.No significant mutations were found in the FRMD7 coding region and adjacent splicing sites in the probands of the other four families.@*Conclusions@#Two novel pathogenic mutations of FRMD7 are discovered, which expands the pathogenic mutational spectrum of FRMD7 gene causing ICN.

Mutations analysis of FRMD7 gene in idiopathic congenital nystagmus families / 中华实验眼科杂志

Objective To reveal the pathogenic mutations in Chinese families with idiopathic congenital nystagmus(ICN) Methods Six families with ICN were recruited from Subei People's Hospital. DNA was extracted from peripheral blood samples of all participants. All coding and exon-intronic boundary regions of the targeted gene FRMD7 were amplified with PCR and sequenced using Sanger sequencing to detect potential pathogenic mutations. This study followed the Helsinki Declaration and was approved by the Ethics Committee of Subei People's Hospital (NO. 2015KY-126). All patients or their guardians signed informed consent. Results Three mutations (c. 902A>G, c. 1944T>A and 1945G>T) were screened in two families after co-segregation validation of intrafamilial genotype-phenotype,c. 1944T>A and 1945G>T were newly detected mutations which were not detected in 100 normal controls. No significant mutations were found in the FRMD7 coding region and adjacent splicing sites in the probands of the other four families. Conclusions Two novel pathogenic mutations of FRMD7 are discovered,which expands the pathogenic mutational spectrum of FRMD7 gene causing ICN.