A new FOXL2 gene mutation in a woman with premature ovarian failure and sporadic blepharophimosis-ptosis-epicanthus inversus syndrome  Frederico José Silva Corrêa, M.D., Adriano Bueno Tavares, Ph.D., Rinaldo Wellerson Pereira, Ph.D., Mauricio Simões Abrão, Ph.D.  Fertility and Sterility  Volume 93, Issue 3, Pages 1006.e3-1006.e6 (February 2010) DOI: 10.1016/j.fertnstert.2009.08.034 Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions

Figure 1 (A) Three electropherograms. The proband (top) demonstrates a diminished red wave (deletion of a thymidine base) into the dark blue circle and a superposition of bases from this point. The middle and bottom electropherograms are the mother's and the father's sequences, showing a normal DNA sequence. (B) Normal predicted protein with the domains forkhead (in orange) and polyalanine (in pink) and the mutated predicted protein, with the forkhead domain but without polyalanine domain. The red arrow shows the point of mutation. The green segment corresponds to an abnormal amino acid sequence from the mutation point to the stop codon, leading to an premature termination of the protein. Fertility and Sterility 2010 93, 1006.e3-1006.e6DOI: (10.1016/j.fertnstert.2009.08.034) Copyright © 2010 American Society for Reproductive Medicine Terms and Conditions