May 2006
Volume 47, Issue 13
ARVO Annual Meeting Abstract  |   May 2006
A New Myocilin Mutation, D380H: Penetrance and Phenotype Characterization of Family Members
Author Affiliations & Notes
  • N.D. Gaudette
    Ophthalmology, Casey Eye Institute, OHSU, Portland, OR
  • J.R. Samples
    Ophthalmology, Casey Eye Institute, OHSU, Portland, OR
  • M.K. Wirtz
    Ophthalmology, Casey Eye Institute, OHSU, Portland, OR
  • Footnotes
    Commercial Relationships  N.D. Gaudette, None; J.R. Samples, None; M.K. Wirtz, None.
  • Footnotes
    Support  This work was supported by grants RO1 EY11650?07, 5P30EY010572?099003 and M01 RR000334 from the National Institutes of Health, Bethesda, MD; the American Health Assistance Foundation, Bethesda, MD;
Investigative Ophthalmology & Visual Science May 2006, Vol.47, 176. doi:
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    • Get Citation

      N.D. Gaudette, J.R. Samples, M.K. Wirtz; A New Myocilin Mutation, D380H: Penetrance and Phenotype Characterization of Family Members . Invest. Ophthalmol. Vis. Sci. 2006;47(13):176.

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

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Previously, we identified a new myocilin mutation, D380H, in a POAG family during a screen of our 25 families. The clinical presentation of myocilin mutations can vary widely depending upon the mutation and the family background. In this abstract, we present the phenotype and penetrance in family members carrying the D380H mutation.


DNA from the family members was collected following the tenets of the Helsinki declaration under the auspices of the OH&SU IRB and screened for myocilin variants by denaturing high performance liquid chromatography (dHPLC). Any DNA samples with dHPLC data different from the control sample were sequenced for base pair analysis. Two of the family members with the D380H mutation were not available for examination by Dr. John Samples, instead records from their optometrists were obtained.


A D380H myocilin variant was identified in one family with seven living affected individuals. None of the control or random POAG populations had the D380H variant. The clinical findings in family members are shown in the table below. All seven affected members had this variant, Penetrance of the D380H mutation is 87.5% over the age of 40. Table 1. Clinical Findings in Family Members + Intraocular pressures before treatment were not available. Not available for examination by Dr. Samples.  


A D380A myocilin mutation has previously been reported suggesting that this position in myocilin is an important residue with substitution of the D380 with either alanine or histidine resulting in POAG.

Keywords: genetics • mutations • candidate gene analysis 

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