Figure 1

Sequencing results and mutant pedigree map of familial mutations. (A) Sequencing results of two familial mutations. The red arrow indicates the point of mutation. (a) Sequencing results of mutation c.826_827del; (b) Sequencing results of mutation c.2083 C > T. (B) Mutant pedigree map of familial mutations. The arrow refers to the proband; square represents the male; circle represents the female; (a) Mutant pedigree map of mutation c.826_827del; b: Mutant pedigree map of mutation c.2083 C > T.