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. 2018 Aug 1;4(4):e262. doi: 10.1212/NXG.0000000000000262

Figure 1. TDP2 splice site mutation in an individual from the United States with SCAR23.

Figure 1

(A) Pedigree analysis. White symbols: wild-type TDP2. Black symbols: homozygosity for the TDP2 splice site mutation c.425+1G>A (IVS3+1G>A) in the proband (“1”). Dotted symbols, heterozygosity for c.425+1G>A (IVS3+1G>A). (B) Sanger sequencing of the proband, demonstrating (left) the homozygous TDP2 mutation c.425+1G>A (IVS3+1G>A) and (right) the absence of the ZSCAN9 variant c914A>G. Patient sequences are shown at the bottom, and reference sequences are shown at the top. The 2 nucleotides relevant to the mutations are underlined. (C) Pathologic features of the Irish and US patients. (D) Haplotypes of Irish patients (51670; Irish pedigree) and the current patient from the United States (1583786) carrying the homozygous c.425+1G>A variant in TDP2. Only the variants bordering and directly within the homozygous regions and with a minor allele frequency of 5% are shown. Variants are indicated by their accession number in the dbSNP database, and the position of c.425+1G>A is in bold. The minimal overlapping region is delimited by rs9396886 and rs749338 and is 15.1 Mb in size. Black bars represent the homozygous haplotype as inferred from exome sequencing data. TDP2 = tyrosyl DNA phosphodiesterase 2.