A FRMD7 variant in a Japanese family causes congenital nystagmus
نویسندگان
چکیده
منابع مشابه
A novel frame-shift mutation in FRMD7 causes X-linked idiopathic congenital nystagmus in a Chinese family
PURPOSE To screen mutations in the FERM domain-containing 7 (FRMD7) gene in a Chinese family with X-linked idiopathic congenital nystagmus (ICN). METHODS It has been reported that FRMD7 mutations account for approximately 47% of X-linked nystagmus in Chinese patients. We collected 5 ml of blood samples from members of a family with X-linked ICN and 100 normal controls. Mutations in FRMD7 were...
متن کاملIdentifcation of a Novel Mutation p.I240T in the FRMD7 gene in a Family with Congenital Nystagmus
Congenital Nystagmus (CN) is a genetically heterogeneous ocular disease, which causes a significant proportion of childhood visual impairment. To identify the underlying genetic defect of a CN family, twenty-two members were recruited. Genotype analysis showed that affected individuals shared a common haplotype with markers flanking FRMD7 locus. Sequencing FRMD7 revealed a T > C transition in e...
متن کاملA novel mutation in FRMD7 causing X-linked idiopathic congenital nystagmus in a large family
PURPOSE To identify the gene responsible for causing an X-linked idiopathic congenital nystagmus (XLICN) in a six-generation Chinese family. METHODS Forty-nine members of an XLICN family were recruited and examined after obtaining informed consent. Affected male individuals were genotyped with microsatellite markers around the FRMD7 locus. Mutations were comprehensively screened by direct seq...
متن کاملA novel splicing mutation of the FRMD7 gene in a Chinese family with X-linked congenital nystagmus
PURPOSE To identify a potential pathogenic mutation in a four-generation Chinese family with X-linked congenital nystagmus (XLCN). METHODS Routine clinical examination and ophthalmic evaluation were performed on normal controls, two patients and two healthy members of the family. Genomic DNA was prepared from the peripheral blood of members of the family and from 50 normal controls. All codin...
متن کاملCongenital Nystagmus Gene FRMD7 Is Necessary for Establishing a Neuronal Circuit Asymmetry for Direction Selectivity
Neuronal circuit asymmetries are important components of brain circuits, but the molecular pathways leading to their establishment remain unknown. Here we found that the mutation of FRMD7, a gene that is defective in human congenital nystagmus, leads to the selective loss of the horizontal optokinetic reflex in mice, as it does in humans. This is accompanied by the selective loss of horizontal ...
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ژورنال
عنوان ژورنال: Human Genome Variation
سال: 2015
ISSN: 2054-345X
DOI: 10.1038/hgv.2015.2