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      • Department of Molecular Biology and Genetics
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      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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      Author(s)
      Kaplan, Y.
      Vargel, I.
      Kansu, T.
      Akin, B.
      Rohmann, E.
      Kamaci, S.
      Uz, E.
      Ozcelik, T.
      Wollnik, B.
      Akarsu, N. A.
      Date
      2008
      Source Title
      British Journal of Ophthalmology
      Print ISSN
      0007-1161
      Publisher
      BMJ Group
      Volume
      92
      Issue
      1
      Pages
      135 - 141
      Language
      English
      Type
      Article
      Item Usage Stats
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      255
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      Abstract
      Aims: 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.
      Keywords
      Amino acid
      Arginine
      Glycine
      Cytoskeleton protein
      FRMD7 protein, human
      Membrane protein
      Unclassified drug
      Article
      Congenital nystagmus
      DNA methylation
      Exon
      Family
      Female
      Gene activation
      Gene locus
      Gene mutation
      Gene sequence
      Genetic linkage
      Heterozygosity
      Homozygosity
      Human
      Intron
      Major clinical study
      Male
      Missense mutation
      Phenotype
      Polymerase chain reaction
      Priority journal
      Substitution reaction
      X chromosome
      X chromosome linked disorder
      Adult
      Aged
      Congenital nystagmus
      Eye disease
      Genetics
      Methodology
      Middle aged
      Non insulin dependent diabetes mellitus
      Nucleotide sequence
      Obesity
      Pedigree
      X chromosome inactivation
      X chromosome linked disorder
      Base Sequence
      Cytoskeletal Proteins
      Diabetes Mellitus, Type 2
      DNA Mutational Analysis
      Eye Diseases, Hereditary
      Female
      Genetic Diseases, X-Linked
      Humans
      Linkage (Genetics)
      Male
      Membrane Proteins
      Middle Aged
      Mutation, Missense
      Nystagmus, Congenital
      Obesity
      Pedigree
      X Chromosome Inactivation
      Permalink
      http://hdl.handle.net/11693/23235
      Published Version (Please cite this version)
      http://dx.doi.org/10.1136/bjo.2007.128157
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