Figure 2. Pedigree of MCD type I family

This pedigree demonstrates the segregation of a 10 base insertion (ATGCTGTGCG) between nucleotides 707 and 708 of CHST6 within the family. Affected individuals 2 and 3 are compound heterozygous for mutations C1075T and the ATGCTGTGCG insertion in the CHST6 coding region. The two offspring of the individuals 1 and 2 (6 and 7) are homozygous for the insertion.