Neoklis A. Georgopoulos, M. D. , Vasiliki Koika, Ph. D

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Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome Neoklis A. Georgopoulos, M.D., Vasiliki Koika, Ph.D., Assimina Galli-Tsinopoulou, M.D., Bessie E. Spiliotis, M.D., George Adonakis, M.D., Maria K. Keramida, Ph.D., Argyro Sgourou, Ph.D., Kleanthis D. Koufogiannis, M.D., Adamantia Papachatzopoulou, Ph.D., Athanasios G. Papavassiliou, M.D., George Kourounis, M.D., George A. Vagenakis, M.D. Fertility and Sterility Volume 88, Issue 5, Pages 1311-1317 (November 2007) DOI: 10.1016/j.fertnstert.2006.12.044 Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Electrochromatograms showing the two point mutations (A) at 1540 bp of exon 11 and (B) at 1978 bp of exon 13 of the KAL1 gene identified in the patient with Kallmann syndrome and renal aplasia. The heterozygotous status of his mother for (C) exon 11 and (D) exon 13. Georgopoulos. Kallmann syndrome and renal dysgenesis. Fertil Steril 2007. Fertility and Sterility 2007 88, 1311-1317DOI: (10.1016/j.fertnstert.2006.12.044) Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Schematic representation of the Xp22.31 region showing the identified VCXA and VCXB genes located on each side of the STS gene. Agarose gel electrophoresis of PCR products from the patient with KS, ichthyosis, and right renal agenesis (P) and a normal control (WT). (A) Exons 4–10 of the KAL1 gene showing the deletion of exons 5–10 in the patient. (B) The 5′ and 3′ extreme regions of the STS gene showing the deletion of the STS gene. (C) Fragments of the VCXA and VCXB genes proving their presence. Georgopoulos. Kallmann syndrome and renal dysgenesis. Fertil Steril 2007. Fertility and Sterility 2007 88, 1311-1317DOI: (10.1016/j.fertnstert.2006.12.044) Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions

Figure 3 Schematic representation of the structure of anosmin-1 indicating the relative positions of mutations identified in patients with KS and renal agenesis/dysgenesis. Georgopoulos. Kallmann syndrome and renal dysgenesis. Fertil Steril 2007. Fertility and Sterility 2007 88, 1311-1317DOI: (10.1016/j.fertnstert.2006.12.044) Copyright © 2007 American Society for Reproductive Medicine Terms and Conditions