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. 2021 Feb 9;30(6):411–429. doi: 10.1093/hmg/ddab041

Figure 4.

Figure 4

Gene expression level in atypical WS reveals a position effect on a non-deleted gene, CLIP2. (A) The deletion of atypical WS includes genes from ABHD11 to RFC2, which is determined by using custom high density NimbleGen microarrays of chromosome 7. The telomeric breakpoint (73 331 kb) is located ~10 kb upstream of the 5' UTR of CLIP2. (B) Individual exon-level relative intensities for five differentially expressed genes (ABHD11 to RFC2) plus CLIP2, which is not deleted by under-expressed (see Table 1). Exons are binned in chromosomal order by gene (columns) and by individual (rows) for 6 atypical WS and 18 controls. (C) qRT-PCR of 8 genes (STX1A, LIMK1, CLIP2, GTF2I, DAPK1, CTTN, FHL3, DBN1) in un-pooled 58 subjects (34 WS, blue dots; 18 TC, black dots 6 atypical WS, orange dots) except STX1A show highly significant correlations with microarray results.