Fig. 5

Sequencing of the RUNX2 gene: c.947delA p. (His316fs) . This disease is an autosomal dominant inheritance. The child has a heterozygous mutation whose parents are normal. This mutation is a frameshift mutation (the RUNX2 translation protein has a disorder in the coding of the amino acid residue His at position 316). This mutation is expected to cause the encoded protein to be truncated and lose its normal function. (a: reference; b: patient; c: the father; d:the mother)