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. 2019 Jun 20;105(1):151–165. doi: 10.1016/j.ajhg.2019.05.016

Figure 2.

Figure 2

Linkage of the CANVAS Locus to Chromosome 4 and Identification of (AAGGG)exp Intronic Insertion in RFC1

(A) The pedigree of the family CANVAS9 highlights the apparent recessive inheritance pattern.

(B) Linkage analysis of CANVAS9 identified significant linkage to chromosome 4 (LOD = 3.25).

(C) Linkage regions for individual families CANVAS1, 2, 3, 4, and 9 are shown in blue and the overlapping region shown in red (chr4:38887351–40463592, combined LOD = 7.04).

(D) STR analysis of WGS from two unrelated individuals with CANVAS identified an expanded STR in the second intron of RFC1. The (AAAAG)11 motif that is present in the reference genome and part of an existing Alu element (AluSx3) is replaced by the (AAGGG)exp RE.