Autosomal-Dominant Congenital Cataract Associated with a Deletion Mutation in the Human Beaded Filament Protein Gene BFSP2 Petra M. Jakobs, John F. Hess,

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Autosomal-Dominant Congenital Cataract Associated with a Deletion Mutation in the Human Beaded Filament Protein Gene BFSP2 Petra M. Jakobs, John F. Hess, Paul G. FitzGerald, Patricia Kramer, Richard G. Weleber, Michael Litt The American Journal of Human Genetics Volume 66, Issue 4, Pages 1432-1436 (April 2000) DOI: 10.1086/302872 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Retroillumination slit-lamp photograph of left lens of a 12-year-old boy, demonstrating spokelike cortical opacities with radially oriented fine vacuoles. Bilateral cataracts were first noted at age 7 years, at which time the acuity was 20/40 in the left eye and 20/30 in the right eye. The acuity declined to 20/50 in the right eye; cataract surgery with intraocular lens implantation restored the acuity to 20/25. The visual acuity in the left eye is now 20/40. The American Journal of Human Genetics 2000 66, 1432-1436DOI: (10.1086/302872) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 Domain structure of human phakinin (hphak) (top). “Coil” domains predicted to mediate assembly of coiled-coil dimers are noted. Shown below are the amino-acid sequences of residues 188–237 of hphak and of homologous regions from 26 other IF proteins. Residues 1 and 4 of the alpha helical heptad repeats of hphak are starred. Glutamic acid 233 of hphak is underlined and appears in boldface type. Residues in the other IF proteins identical to those at homologous positions of hphak are indicated by dashes. Abbreviations for other IF proteins are as follows: mphak, murine phakinin; bphak, bovine phakinin; cphak, chicken phakinin; hk1–hk20, human keratins type 1–type 20; hvim, human vimentin (type 3); hdesmin, human desmin (type 3); hperiph, human peripherin; hgfap, human glial fibrillary acidic protein; hnfl, human neurofilament light chain; and hnfm, human neurofilament medium chain. The American Journal of Human Genetics 2000 66, 1432-1436DOI: (10.1086/302872) Copyright © 2000 The American Society of Human Genetics Terms and Conditions