Novel mutations in FRMD7 in X-linked congenital nystagmus
نویسندگان
چکیده
منابع مشابه
Novel mutations of the FRMD7 gene in X-linked congenital motor nystagmus.
PURPOSE 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 purpose of this study was to identify mutations of the FRMD7 gene in Chinese patients with CMN. METHODS Clinical data and genomic DNA of three Chinese CMN famili...
متن کاملIdentification of Three Novel Mutations in the FRMD7 Gene for X-linked Idiopathic Congenital Nystagmus
Idiopathic congenital nystagmus (ICN) consists of involuntary and periodic ocular motility, often with seriously reduced visual acuity. To identify the genetic defects associated with X-linked ICN, we performed PCR-based DNA direct sequencing of two candidate genes, FRMD7 and GPR143, in four families. Mutation analysis led to identification of three novel mutations, p.S260R, p.Q487X, and p.V549...
متن کاملFRMD7 mutations in Chinese families with X-linked congenital motor nystagmus.
PURPOSE To identify mutations causing X-linked congenital motor nystagmus (XL-CMN) in Chinese families. METHODS Genomic DNA was prepared from peripheral blood leukocytes. Cycle sequencing was used to detect the sequence variation of the FERM domain containing 7 (FRMD7) gene, where mutations have been identified recently to associate with XL-CMN. RESULTS Sequencing of the coding and the adja...
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 کاملFive novel mutations of the FRMD7 gene in Chinese families with X-linked infantile nystagmus
PURPOSE Infantile nystagmus (IN) is an inherited disorder characterized by bilateral ocular oscillatory movements. Recently, mutations in FRMD7 were found to be responsible for X-linked idiopathic infantile nystagmus . We investigated the role of the FRMD7 gene mutations in seven Chinese families with infantile nystagmus. METHODS Linkage analysis was performed with fluorescently labeled micro...
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ژورنال
عنوان ژورنال: Human Mutation
سال: 2007
ISSN: 1059-7794,1098-1004
DOI: 10.1002/humu.9492