April 2009
Volume 50, Issue 13
ARVO Annual Meeting Abstract  |   April 2009
ASCC3L1 Gene Mutation in a Chinese Family With Autosomal Dominant Retinitis Pigmentosa
Author Affiliations & Notes
  • N. LI
    OGVFB/NEI, NIH, Bethesda, Maryland
  • M. Han
    Tianjin Eye Hospital, Tianjin, China
  • X. Jiao
    OGVFB/NEI, NIH, Bethesda, Maryland
  • I. MacDonald
    OGVFB/NEI, NIH, Bethesda, Maryland
  • K. Zhao
    Tianjin Eye Hospital, Tianjin, China
  • J. Hejtmancik
    OGVFB/NEI, NIH, Bethesda, Maryland
  • Footnotes
    Commercial Relationships  N. Li, None; M. Han, None; X. Jiao, None; I. MacDonald, None; K. Zhao, None; J. Hejtmancik, None.
  • Footnotes
    Support  . Financial support was provided by the National Eye Institute Intramural Program, National Institutes for Health, Bethesda USA.
Investigative Ophthalmology & Visual Science April 2009, Vol.50, 2303. doi:
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    • Get Citation

      N. LI, M. Han, X. Jiao, I. MacDonald, K. Zhao, J. Hejtmancik; ASCC3L1 Gene Mutation in a Chinese Family With Autosomal Dominant Retinitis Pigmentosa. Invest. Ophthalmol. Vis. Sci. 2009;50(13):2303.

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

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Purpose: : To localize and identify the pathogenic gene in a Chinese Family with autosomal dominant retinitis pigmentosa.

Methods: : A Chinese family with adRP was ascertained and patients underwent complete ophthalmological examinations. Blood samples were collected and DNA was extracted after informed consent. A linkage scan of genomic regions containing known candidate genes was performed using 54 polymorphic microsatellite markers followed by fine mapping on genomic DNA from affected and unaffected family members and lod scores were calculated. Candidate genes were sequenced directly and mutations analyzed.

Results: : A maximum lod score of 3.5 at θ = 0 was obtained with D2S2333 and 3.46 at θ = 0 with D2S2216. This region harbors the ASCC3L1 gene. Sequencing of ASCC3L1 shows a heterozygous single base pair change; c.3269GT, single base pair change predicted to result in a R1090L amino acid change.

Conclusions: : These results provide strong evidence that mutations in ASCC3L1 result in autosomal dominant retinitis pigmentosa in this Chinese family.

Keywords: retinitis • gene mapping • mutations 

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