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. Author manuscript; available in PMC: 2024 Sep 1.
Published in final edited form as: Am J Med Genet A. 2023 Jun 9;191(9):2376–2391. doi: 10.1002/ajmg.a.63322

Figure 2. Characterization of a 17.77 kb CNV deletion in BBS1 in family DM1586 and family DM1576.

Figure 2.

(a-b) Pedigrees and segregation of BBS1 exon disruptive deletion. (c) Schematic representation of human chromosome 11 and location of BBS1 CNV deletion is indicated with vertical red bar; enlarged view shows schematic of BBS1 transcript and location of AluY-AluY repeats elements. Short interspersed nuclear elements (SINE) (d-e) CNV plot showing homozygous and heterozygous BBS1 deletion, the gray area marks 95% confidence interval and the vertical black dotted lines indicate the location of the CNV; bottom, schematic of BBS1 locus: vertical bars, exons; horizontal line, intronic region; coordinates on chromosome 11 (hg19) are shown. (f) BBS1 breakpoint junction and sequence chromatograms amplified from genomic DNA of DM1586-0001 (II-1); a 4 bp microhomology region is present at the junction of DPP3 and BBS1, highlighted in red.