Figure 3
From: Intragenic MBD5 familial deletion variant does not negatively impact MBD5 mRNA expression
MBD5 mRNA expression is not altered in individuals with MBD5 intronic deletion. Quantitative RT-PCR was used to test MBD5 mRNA expression levels. MBD5 mRNA expression levels are not significantly altered in SMS431 (child) or SMS432 (father) or SMS433 (mother) compared to controls. The expression of a typical 2q23.1 deletion syndrome case shows significantly reduced MBD5 expression compared to controls.