Skip to main content
. 2016 Dec 22;26(2):243–257. doi: 10.1093/hmg/ddw382

Figure 1.

Figure 1.

USF3 germline compound heterozygous in-frame deletion in the CS-like 1617 family. (A) 1617 family pedigree. All nine available samples from family members (I-3, II-1, II-2, II-3, II-4, II-5, II-7, II-8, II-9) were analysed by genome-wide SNP array (family studies approach). Four family members (highlighted in red), three affected and one unaffected, were also analysed by whole-genome sequencing of their germline DNA. Del1Q, del3Q, and del1Q/3Q denote USF3 3bp in-frame deletion c.4410_4412delGCA/p.Gln1472del, 9bp c.4410_4418delGCAGCAGCA/p.Gln1470_Gln1472del, or compound heterozygous deletion of the two p.[Gln1472del];[Gln1470-Gln1472del]. Symbols are: square, male; circle, female; slash, deceased; black filling, papillary thyroid cancer phenotype; dashed back slash filling, leukemia or lymphoma phenotype. (B) IGV view of sequence reads. The 3bp in-frame deletion c.4410_4412delGCA/p.Gln1472del (del1Q) in gene USF3 in three of the affected family members (II-1, II-3, II-4) but not in the unaffected member I-3). The 9bp c.4410_4418delGCAGCAGCA/p.Gln1470_Gln1472del (del3Q) was observed in all four family members. The reads were label as KIAA2018 in IGV for USF3. (C) Representative cloning Sanger sequencing traces of unaffected family member II-9 only showing del1Q, affected family member II-5 showing both del1Q and del3Q, and unaffected family member I-3 showing only del3Q.