Figure 5.
Metaphase Analysis and NBL2 Southern Blot Analysis of Rf210, Rf732, and ICF1-Affected Families
(A) Metaphases were analyzed from three heterozygous DNMT3B-mutation carriers (Rf210.319, Rf732.3, and Rf1178.3), one ICF1 individual (Rf1178.2), and three individuals without a DNMT3B variant (Rf210.316, Rf210.317, and Rf1178.1). Identifiers from Leiden University Medical Center and Coriell, the mutation in DNMT3B (GenBank: NM_006892.3), and the number of analyzed metaphases are indicated. Chromosomal anomalies are listed in the last column.
(B) Four panels show examples of chromosomal anomalies identified in individual Rf210.319. Chromosomal anomalies are indicated with red arrows.
(C) NBL2 Southern blot analysis in Rf210, Rf732, and ICF1-affected families after digestion of 2 μg genomic DNA with the methylation-sensitive endonuclease Eco52I according to previously described protocols.40 Numbers correspond with pedigrees in Figures 1 and 3. Delta1 scores are indicated in brackets. NBL2 was only hypomethylated in the four individuals indicated with an asterisk.