TRAF3 abnormalities. A) Chromosome (left panel) and gene view (right panel) showing mono and biallelic deletions on 14q32.32, including TRAF3 (highlight in red, inside the dashed box). B) cIgM-FISH validations. A TRAF3 monoallelic deletion was identified in a third patient (MC1383) with no aCGH data. The NFKBIA probe was used as a surrogate CEP14 probe. C) Partial DNA sequences of both cases with TRAF3 monoallelic deletion (MC1341 and MC1383), confirming the presence of a mutation in the remaining allele (c.1800G>A and c.1209A>T, leading to D483N and K286X substitutions, respectively). The positions of TRAF3 mutations at the cDNA and protein level are based on NM_145725.1 and NP_663777.1, which represent the accepted full length TRAF3 transcript and polypeptide, respectively.