Allelic Variation of the FRMD7 Gene in Congenital Idiopathic Nystagmus
نویسندگان
چکیده
منابع مشابه
Identification 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 کاملThe Role of FRMD7 in Idiopathic Infantile Nystagmus
Idiopathic infantile nystagmus (IIN) is an inherited disorder in which the nystagmus arises independently of any other symptoms, leading to the speculation that the disorder represents a primary defect in the area of the brain responsible for ocular motor control. The inheritance patterns are heterogeneous, however the most common form is X-linked. FRMD7 resides at Xq26-27 and approximately 50%...
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The myogenic factors (MYF) 5 gene has been reported to contribute to muscle growth and development, therefore they are considered as candidate genes for growth and meat quality related traits. The MYF5 gene is expressed during proliferation of myoblasts and comprises 3 exons. To ascertain whether there is any variation in the camel MYF5 gene, we have used a polymerase chain reaction-single stra...
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 کاملNovel 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...
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ژورنال
عنوان ژورنال: Archives of Ophthalmology
سال: 2007
ISSN: 0003-9950
DOI: 10.1001/archopht.125.9.1255