Novel Compound Heterozygous BBS2 and Homozygous MKKS Variants Detected in Chinese Families with Bardet–Biedl Syndrome

Figure 1

The pedigree and DNA sequencing of family (a) A. The pedigree of family A: M1 stands for variant c.235T > G (p.T79P) in the BBS2 gene, and M2 stands for variant c.534 + 1G > T in the BBS2 gene. (b) The Sanger sequencing of this family. The left column is the sequencing of variant c.235T > G, and the right column is the sequencing of variant c.534 + 1G > T. The arrows indicate where the variant is.

(a)

(b)