Figure 3:

Haplotypes with the different variants of the CAH-X chimeras found in Spanish patients. (A) Variants of the CAH-X CH1 chimera. The most frequent allele was the one that harbored Del120pb, along with another four variants. An allele only included Del120pb. Another allele harbored Del120pb and the c.12174C>G variant (p.Cys4058Trp). In the case of the CAH-X chimera, complete molecular analysis was performed of only six alleles. The reason is that, in the case of these chimeras, once the presence of Del120pb was detected by capillary gel electrophoresis/MLPA, the molecular study of exons 40, 41, and 43 was not performed. (B) The most frequent variant of the CAH-X CH2 chimera was the one that harbored the c.12174C>G mutation (p.Cys4058Trp), along with the molecular abnormalities present in exons 41 and 43. The second most frequent variant was the one that only included the abnormality that is characteristic of this chimera. (C) As it occurs with the other two chimeras, the most frequent variant of the CAH-X CH3 chimera was the one that included the cluster that characterizes it. Another two types of variants were identified: a variant that only contained an abnormality in exon 41 c.12218G>A (p.Arg4073His) and another variant that had an abnormality in exon 41 and one of the occasional abnormalities of exon 43 c.12524G>A (p.Ser4175Asn).