Linkage analysis of two families with X-linked recessive congenital motor nystagmus

Guo, Xiangming; Li, Shiqiang; Jia, Xiaoyun; Xiao, Xueshan; Wang, Panfeng; Zhang, Qingjiong

doi:10.1007/s10038-005-0316-y

Cited by 16 publications

(12 citation statements)

References 15 publications

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“…28 A single gene, FRMD7 at Xq26.2 (NYS1), has been identified as causing congenital nystagmus, [29][30][31] although other loci, including NYS5, NYS2 at 6p12, NYS3 at 7p11, NYS4 at 13q31-q33 and 18q exist. 27,[32][33][34][35][36] Detailed eye assessments of individuals from families 74, V and 683 demonstrated many common features, such as early age of onset of nystagmus, horizontal nystagmus present in all directions of gaze, pendular or increasing velocity waveforms, mildly reduced VA and absence of sensory defects. The consistent finding of gaze-evoked nystagmus indicates a dysfunction of the neural integrator, which is required for all conjugate eye movements.…”

Section: Discussionmentioning

confidence: 99%

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

et al. 2009

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Section: Discussionmentioning

confidence: 99%

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

et al. 2009

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“…Two distinct loci, one on the Xq26–q273 and the other on the Xp11.47 regions have been reported as the likely loci for X linked dominant NYS. The locus on the long arm (Xq26) has been confirmed by subsequent reports of various ethnic populations 8 – 10. To the best of our knowledge, there are only two reports supporting the Xp11.4 locus 7 11.…”

mentioning

confidence: 67%

“…The pattern of inheritance and clinical profile of Xp11-linked families are not different from Xq26-linked pedigrees. X linked recessive NYS has also been mapped to the Xq26 region, which harbours the X linked dominant NYS locus 10. Recently, mutations in the FRMD7 (FERM domain-containing 7) gene have been reported as a molecular cause in Xq26-linked families 6.…”

mentioning

confidence: 99%

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

Kaplan

Vargel

Kansu

et al. 2007

British Journal of Ophthalmology

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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 methylationsensitive 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.

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“…Genotyping and linkage analysis were carried out as previously described (Guo et al 2006). The full CASM syndrome in this family was analyzed as an X-linked recessive trait, with full penetrance and a disease-gene allele frequency of 0.0001.…”

Section: Genotyping and Linkage Analysismentioning

confidence: 99%

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

et al. 2006

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Six males in a Chinese family affected by congenital cataracts, cerebellar ataxia, short stature, and mental retardation, which were tentatively named CASM syndrome. Eight female carriers in the family had cataracts alone. Linkage analysis demonstrated that the disease is transmitted through X-linked inheritance, either by setting the syndrome in males as an X-linked recessive trait, or by setting cataracts in the family as an X-linked dominant trait. The gene responsible for the syndrome is mapped to XpterXq13.1, with the highest lod score of 3.91 for DXS1226, DXS991, and DXS1213 at h = 0. Haplotype analysis identified that the allele harboring the disease gene cosegregated with all female carriers as well as affected males in the family. Clinically and genetically, the disease in this family is different from any known disease. Major features of CASM syndrome that distinguish it from other diseases are X-linked inheritance and cataracts in carrier females.

show abstract

Linkage analysis of two families with X-linked recessive congenital motor nystagmus

Cited by 16 publications

References 15 publications

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes

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

Cataracts, ataxia, short stature, and mental retardation in a Chinese family mapped to Xpter-q13.1

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