Seckel-syndrome of a consanguineous Saudi Arabian family has been associated with a homozygous splice acceptor mutation in the last nucleotide of CENPJ intron 11 (Figure 1A) that results in the production of three transcripts lacking either exon 12, exons 11 and 12 or exons 11, 12 and 13 [4]. The gene discussed is CPAP; the disease is Seckel syndrome.