Fig. 4.

BCOR mutation in the 2 sisters with OFCD syndrome. The BCOR nonsense mutation c.3490C>T (p.R1164*) is present in the 2 sisters but not in their parents. Sequence electropherograms from leukocyte-derived genomic DNA of the proband (upper panel), her mother (middle panel) and her father (lower panel). The index patient is heterozygous for the nonsense mutation c.3490C>T (p.R1164*) in exon 7 of BCOR, while the parents show wild-type (WT) sequence. Nucleotide triplets and encoded amino acids are indicated.