PROKR2 mutations in autosomal recessive Kallmann syndrome Johanna Tommiska, Ph.D., Jorma Toppari, M.D., Ph.D., Kirsi Vaaralahti, M.Sc., Johanna Känsäkoski, B.Sc., Eeva-Maria Laitinen, M.D., Parinya Noisa, Ph.D., Anne Kinnala, M.D., Harri Niinikoski, M.D., Taneli Raivio, M.D., Ph.D.  Fertility and Sterility  Volume 99, Issue 3, Pages 815-818 (March 2013) DOI: 10.1016/j.fertnstert.2012.11.003 Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

Figure 1 Contig of genomic sequences of the family showing a PROKR2 mutation c.701G>A. The proband and his brother were homozygous for this mutation and their mother and father were heterozygous. Samples from top to bottom: father, mother, brother, and the proband. Fertility and Sterility 2013 99, 815-818DOI: (10.1016/j.fertnstert.2012.11.003) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions

Figure 2 Plasma membrane and intracellular expression of wild-type or mutant PROKR2 in transfected COS-1 cells. Fluorescence immunocytochemistry was performed on cells transiently transfected with wild-type or mutant (G234D) HA-tagged PROKR2 complementary DNA (cDNA). Immunostaining was done with HA monoclonal antibody HA-7, and detection was made with Alexa Fluor 568-conjugated goat anti-mouse secondary antibody. Examples of fields of nonpermeabilized (upper row) and permeabilized (lower row) cells are shown. Wild-type receptor was mainly localized on the cell membrane of transfected cells (upper row, left, arrows). In contrast, the mutant receptor was accumulated at cytoplasmic compartments (lower row, middle), not on cell surface. Empty vector (pcDNA3.1+) was used as a negative control. Fertility and Sterility 2013 99, 815-818DOI: (10.1016/j.fertnstert.2012.11.003) Copyright © 2013 American Society for Reproductive Medicine Terms and Conditions