A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

Figure 4

Paternal partial sequence chromatogram displaying the DNA sequence of affected proband, brother, and father (the mother showed the same father sequence chromatogram). The lined nucleotide indicates the position of the homozygous one nucleotide insertion (c.87_88insC, NCBI_rs377648601) resulting in a frameshift mutation and early stop codon. () and red box indicate the position of TGA stop codon. (/) indicates the substituent nucleotides. wt: wild type; Mt: mutant type; and aa: amino acids.