Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene
Akarsu, N. A.
British Journal of Ophthalmology
135 - 141
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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.
FRMD7 protein, human
Major clinical study
Polymerase chain reaction
X chromosome linked disorder
Non insulin dependent diabetes mellitus
X chromosome inactivation
X chromosome linked disorder
Diabetes Mellitus, Type 2
DNA Mutational Analysis
Eye Diseases, Hereditary
Genetic Diseases, X-Linked
X Chromosome Inactivation
Published Version (Please cite this version)http://dx.doi.org/10.1136/bjo.2007.128157
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