(a) Graphical representation of the linkage interval in the pericentromeric region of chromosome 4 (red box), the position of SRD5A3, the position of the mutation and partial chromatogram of exon 1 of the index patient. The asterisk denotes the duplication of one cytosine (c.203dupC;p.Phe69LeufsX2). (b) Results of the RT-PCR using RNA derived from a lymphoblastoid cell line of the index patient showing absence (ex 1–4) or reduced (ex 4–5) expression of SRD5A3 transcripts. HUWE was used as an internal control. The color reproduction of the figure is available on the html full text version of the paper.