May 2008
Volume 49, Issue 13
Free
ARVO Annual Meeting Abstract  |   May 2008
Novel XLRS1 Gene Mutations Cause X-Linked Juvenile Retinoschisis in Chinese Families
Author Affiliations & Notes
  • X. Ma
    Ophthalmology, Henan Eye Institute, ZhengZhou, China
    Ophthalmology, First Hospital of Dalian Medical University, Dalian, China
  • X. X. Li
    Ophthalmology, Peking University, Beijing, China
  • Footnotes
    Commercial Relationships  X. Ma, None; X.X. Li, None.
  • Footnotes
    Support  By National Natural Science Foundation of China(30170997)And by National Basic Research Grant of China (2005CB724307)
Investigative Ophthalmology & Visual Science May 2008, Vol.49, 4006. doi:https://doi.org/
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    • Get Citation

      X. Ma, X. X. Li; Novel XLRS1 Gene Mutations Cause X-Linked Juvenile Retinoschisis in Chinese Families. Invest. Ophthalmol. Vis. Sci. 2008;49(13):4006. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: : To investigate the different XLRS1 (RS1) gene mutations in Chinese families with X-linked juvenile retinoschisis (XLRS or RS).

Methods: : Genomic DNA was isolated from leukocytes of 29 male patients of X-linked juvenile retinoschisis, 38 female carriers and 100 normal controls. All 6 exons of RS1 gene were amplified by polymerase chain reaction (PCR) and the RS1 gene mutations were determined by direct sequencing.

Results: : Eleven different RS1 mutations in twelve families were identified in all 29 male patients. The mutations included eight missense, two frameshift and one splice donor site mutation. Four of these mutations, one frameshift mutation (26 del T) of exon 1, one frameshift mutation (488 del G) of exon 5, Asp145His and Arg156Gly of exon 5, have not been previously described. One non-disease-related novel polymorphisms (NSP): e.g. The 576C to T (Pro192Pro) change of exon 6 was also reported. Six recurrent mutations including Ser73Pro and Arg102Gln mutations of exon 4, Arg200Cys, Arg209His, Arg213Gln and Cys223Arg mutations of exon 6 were also identified in this study.

Conclusions: : RS1 gene mutations causes X-linked juvenile retinoschisis in these Chinese families.

Clinical Trial: : www.actr.org.au 33693

Keywords: retina • genetics • mutations 
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