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. 2022 Dec 9;23(24):15639. doi: 10.3390/ijms232415639

Figure 2.

Figure 2

Nanopore sequencing of a large deletion in CCM1 identified by MLPA revealed a partial deletion of ANKIB1. (a) MLPA revealed the heterozygous deletion of exons 2–6 of CCM1 (RPA = relative product area). An exon is considered to be deleted or duplicated if the ratio RPA is below 75% or above 125%, respectively (blue area). (b) Subsequent nanopore sequencing showed that the deletion comprises 10,337 base pairs, spanning from CCM1 intron 6 to ANKIB1 intron 1. Read data were inspected in IGV [23]. (c) Deletion-specific PCR detected a 650 bp band in the sample of the index proband (P) and its absence in a healthy control (C) and negative control sample (−). Sanger sequencing of the extracted band revealed the exact deletion breakpoints. The genomic location is based on the GRCh37 reference genome. The Locus Reference Genomic (LRG) transcript (CCM1) and RefSeq transcript (ANKIB1) are shown (b).