Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene

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dc.citation.epage141en_US
dc.citation.issueNumber1en_US
dc.citation.spage135en_US
dc.citation.volumeNumber92en_US
dc.contributor.authorKaplan, Y.en_US
dc.contributor.authorVargel, I.en_US
dc.contributor.authorKansu, T.en_US
dc.contributor.authorAkin, B.en_US
dc.contributor.authorRohmann, E.en_US
dc.contributor.authorKamaci, S.en_US
dc.contributor.authorUz, E.en_US
dc.contributor.authorOzcelik, T.en_US
dc.contributor.authorWollnik, B.en_US
dc.contributor.authorAkarsu, N. A.en_US
dc.date.accessioned2016-02-08T10:10:39Z
dc.date.available2016-02-08T10:10:39Z
dc.date.issued2008en_US
dc.departmentDepartment of Molecular Biology and Geneticsen_US
dc.description.abstractAims: This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family. Methods: Both Xp11 and Xq26 loci were tested by linkage analysis. The 12 exons and intron-exon junctions of the FRMD7 gene were screened by direct sequencing. X chromosome inactivation analysis was performed by enzymatic predigestion of DNA with a methylation-sensitive enzyme, followed by PCR of the polymorphic CAG repeat of the androgen receptor gene. Results: The family contained 162 individuals, among whom 28 had NYS. Linkage analysis confirmed the Xq26 locus. A novel missense c.686C>G mutation, which causes the substitution of a conserved arginine at amino acid position 229 by glycine (p.R229G) in exon 8 of the FRMD7 gene, was observed. This change was not documented in 120 control individuals. The clinical findings in a female who was homozygous for the mutation were not different from those of affected heterozygous females. Skewed X inactivation was remarkable in the affected females of the family. Conclusions: A novel p.R229G mutation in the FRMD7 gene causes the NYS phenotype, and skewed X inactivation influences the manifestation of the disease in X linked NYS females.en_US
dc.identifier.doi10.1136/bjo.2007.128157en_US
dc.identifier.issn0007-1161
dc.identifier.urihttp://hdl.handle.net/11693/23235
dc.language.isoEnglishen_US
dc.publisherBMJ Groupen_US
dc.relation.isversionofhttp://dx.doi.org/10.1136/bjo.2007.128157en_US
dc.source.titleBritish Journal of Ophthalmologyen_US
dc.subjectAmino aciden_US
dc.subjectArginineen_US
dc.subjectGlycineen_US
dc.subjectCytoskeleton proteinen_US
dc.subjectFRMD7 protein, humanen_US
dc.subjectMembrane proteinen_US
dc.subjectUnclassified drugen_US
dc.subjectArticleen_US
dc.subjectCongenital nystagmusen_US
dc.subjectDNA methylationen_US
dc.subjectExonen_US
dc.subjectFamilyen_US
dc.subjectFemaleen_US
dc.subjectGene activationen_US
dc.subjectGene locusen_US
dc.subjectGene mutationen_US
dc.subjectGene sequenceen_US
dc.subjectGenetic linkageen_US
dc.subjectHeterozygosityen_US
dc.subjectHomozygosityen_US
dc.subjectHumanen_US
dc.subjectIntronen_US
dc.subjectMajor clinical studyen_US
dc.subjectMaleen_US
dc.subjectMissense mutationen_US
dc.subjectPhenotypeen_US
dc.subjectPolymerase chain reactionen_US
dc.subjectPriority journalen_US
dc.subjectSubstitution reactionen_US
dc.subjectX chromosomeen_US
dc.subjectX chromosome linked disorderen_US
dc.subjectAdulten_US
dc.subjectAgeden_US
dc.subjectCongenital nystagmusen_US
dc.subjectEye diseaseen_US
dc.subjectGeneticsen_US
dc.subjectMethodologyen_US
dc.subjectMiddle ageden_US
dc.subjectNon insulin dependent diabetes mellitusen_US
dc.subjectNucleotide sequenceen_US
dc.subjectObesityen_US
dc.subjectPedigreeen_US
dc.subjectX chromosome inactivationen_US
dc.subjectX chromosome linked disorderen_US
dc.subjectBase Sequenceen_US
dc.subjectCytoskeletal Proteinsen_US
dc.subjectDiabetes Mellitus, Type 2en_US
dc.subjectDNA Mutational Analysisen_US
dc.subjectEye Diseases, Hereditaryen_US
dc.subjectFemaleen_US
dc.subjectGenetic Diseases, X-Linkeden_US
dc.subjectHumansen_US
dc.subjectLinkage (Genetics)en_US
dc.subjectMaleen_US
dc.subjectMembrane Proteinsen_US
dc.subjectMiddle Ageden_US
dc.subjectMutation, Missenseen_US
dc.subjectNystagmus, Congenitalen_US
dc.subjectObesityen_US
dc.subjectPedigreeen_US
dc.subjectX Chromosome Inactivationen_US
dc.titleSkewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 geneen_US
dc.typeArticleen_US

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