Figure 1.

Pedigree of the spondyloepiphyseal dysplasia congenita families and Sanger sequencing results of COL2A1. (a, b) The pedigree of the family 1 and 2 in this study. The probands are indicated by black arrow. (c, d) The DNA sequencing results of the patients, their families and normal controls. In proband 1 and his father, a novel variant was identified as c.1654G>A (p.Gly552Arg) in exon 25 of COL2A1. In proband 2 and her mother, a novel variant was identified as c.3518G>T (p.Gly1173Val) in exon 50 of COL2A1