HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice.
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ABSTRACT:
SUBMITTER: Jing Z
PROVIDER: S-EPMC4134754 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
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HSF4 mutation p.Arg116His found in age-related cataracts and in normal populations produces childhood lamellar cataract in transgenic mice.
Jing Zhe Z Gangalum Rajendra K RK Bhat Ankur M AM Nagaoka Yoshiko Y Jiang Meisheng M Bhat Suraj P SP
Human mutation 20140723 9
The p.Arg116His mutation in the heat shock transcription factor-4 (HSF4) has been associated with age-related cataracts, but it is also seen in 2% of the normal population, indicating either reduced penetrance or that the normal subjects were not old enough to express the phenotype. Based on the proximity of p.Arg116His to two known mutations in the DNA-binding domain of HSF4, namely, p.Leu114Pro and p.Arg119Cys, which segregate with childhood lamellar cataract, we tested the possibility that th ...[more]
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