PMC4057248_01
Clinical phenotype and whole exome sequence analysis. A: Pedigree diagram of family A. B: Microspherophakic lens in the right eye. C: Brachydactyly of the toes. D: Dorsal and ventral sides of hands from the patient and her unaffected sister to show brachydactyly only in the patient. E: X-ray images of the hands of the patient and her unaffected sibling to show brachydactyly in the patient. Both images are at the same magnification. F: Short stature. G: The absence of stiffness of joints in the patient and her unaffected sister is shown by the ability to make fists. H: Whole exome sequencing (WES) data. I: Sequencing chromatograms of individuals from family A. Arrows mark the nucleotide change G>T. + and m represent the wild-type and mutant alleles, respectively. The age of individuals in years is given below the symbols.
mv-v20-790-f1.jpg
PMC4057248_01_mv-v20-790-f1.jpg
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We recruited a 21-year old female patient along with her 58-year old unaffected father, 55-year old unaffected mother, 41-year old unaffected brother and 30-year old unaffected sister (Figure 1A) at the Bangalore West Lions Superspeciality Eye Hospital, Bangalore in April 1999 for decreased vision in the right eye for two years. There was microspherophakia (Figure 1B) with iridodonesis and phacodonesis in both eyes. She had short stature (131 cm), brachydactyly, and the absence of joint stiffness (Figure 1C-G).