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A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA  Shuji Yamamoto, Masaki Okada, Motokazu Tsujikawa, Yoshikazu Shimomura, Kohji.

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Presentation on theme: "A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA  Shuji Yamamoto, Masaki Okada, Motokazu Tsujikawa, Yoshikazu Shimomura, Kohji."— Presentation transcript:

1 A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA 
Shuji Yamamoto, Masaki Okada, Motokazu Tsujikawa, Yoshikazu Shimomura, Kohji Nishida, Yoshitsugu Inoue, Hitoshi Watanabe, Naoyuki Maeda, Hiroki Kurahashi, Shigeru Kinoshita, Yusuke Nakamura, Yasuo Tano  The American Journal of Human Genetics  Volume 62, Issue 3, Pages (March 1998) DOI: /301765 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2 Figure 1 Clinical and histological appearance of LCD corneas. A, LCD type I, showing central opacities. Fine lattice lines are present in this patient, but they are difficult to reproduce photographically. In this case, we identified a heterozygous missense mutation, R124C, that was identical to that of a previous report (Munier et al. 1997) (original magnification × 5). B, LCD type IIIA, showing thick, ropy branching lattice lines throughout the cornea on sclerotic scatter (patient A-3, in family A) (original magnification × 5). C and D, Histology of the stroma from one of our four sporadic LCD type IIIA cases stained with congo red (D is viewed under polarized light), showing an amyloid deposit (original magnification ×100). The American Journal of Human Genetics  , DOI: ( /301765) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Pedigrees of families with LCD type IIIA. Asterisks (*) denote individuals whose leukocyte DNA was analyzed. The American Journal of Human Genetics  , DOI: ( /301765) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

4 Figure 3 Direct sequencing of exon 11 of the βig-h3 gene. a, Unaffected control. b, Patient B-2, the proband of family B (fig. 2). Sequencing of the normal and mutant alleles of the patient identified the C→A transition (CCA→ACA) at position 1501, resulting in a proline-to-threonine substitution (Pro501Thr) in the protein. Other affected members had the same mutation. The nucleotide N indicates the presence of both C and A. The American Journal of Human Genetics  , DOI: ( /301765) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

5 Figure 4 Cosegregation study by restriction-digestion analysis of exon 11. N = normal individual, for control; M = 100-bp ladder marker. The upper band (165 bp) represents the wild type, and the lower digested band (146 bp) represents the mutation Pro501Thr. All affected patients carry the mutation-specific lower band. The American Journal of Human Genetics  , DOI: ( /301765) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

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