Linkage analysis of two families with X-linked recessive congenital motor nystagmus
نویسندگان
چکیده
منابع مشابه
FRMD7 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 کاملClinical characterization and linkage analysis of a family with congenital X-linked nystagmus and deuteranomaly.
OBJECTIVES To identify a congenital nystagmus locus on the X chromosome and to characterize the phenotype of a 4-generation family affected with congenital nystagmus and color deficiency. METHODS Sixty-five patients underwent an eye examination, including evaluation for the presence of nystagmus and color vision abnormalities. Affected patients and obligate carriers of the congenital nystagmu...
متن کاملFine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.
PURPOSE To refine the interval for X-linked congenital idiopathic nystagmus at Xq24-q26.3 and to evaluate a novel candidate gene (Muscleblind-like 3 gene [MBNL3]). METHODS A single pedigree with congenital idiopathic nystagmus (CIN) inherited as an X-linked recessive trait underwent detailed clinical examination including nystagmology and electrophysiological investigation in selected subject...
متن کاملGPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus
The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutat...
متن کاملInvestigation of the gene mutations in two Chinese families with X-linked infantile nystagmus
PURPOSE To identify the gene mutations causing X-linked infantile nystagmus in two Chinese families (NYS003 and NYS008), of which the NYS003 family was assigned to the FERM domain-containing 7 (FRMD7) gene linked region in our previous study, and no mutations were found by direct sequencing. METHODS Two microsatellites, DXS1047 and DXS1001, were amplified using a PCR reaction for the linkage ...
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ژورنال
عنوان ژورنال: Journal of Human Genetics
سال: 2005
ISSN: 1434-5161,1435-232X
DOI: 10.1007/s10038-005-0316-y