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. 2013 Aug 8;93(2):313–320. doi: 10.1016/j.ajhg.2013.06.002

Figure 2.

Figure 2

Identification of a CTSH Mutation in a Mendelian Form of Myopia

(A) Pedigree of a consanguineous family with one child with extreme myopia.

(B) Autozygome analysis shows several blocks of autozygosity but one block is shown that harbors CTSH and next to it is a schematic of the filtration strategy used to highlight the CTSH mutation.

(C) Schematic of CTSH and the protein it encodes with the sites of the two truncating mutations shown. DNA chromatograms for the reported mutation are shown.