Rothmund–Thomson Syndrome and Glomerulonephritis in a Homozygous C1q- Deficient Patient Due to a Gly164Ser C1qC Mutation  Alberto López-Lera, Juan M. Torres-Canizales, Sofía Garrido, Adelaida Morales, Margarita López-Trascasa  Journal of Investigative Dermatology  Volume 134, Issue 4, Pages 1152-1154 (April 2014) DOI: 10.1038/jid.2013.444 Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Biochemical and molecular studies in a C1q-deficient individual affected by Rothmund–Thomson syndrome (RTS). (a) Chromatogram showing the homozygous c.490G>A missense mutation in the C1qC gene’s exon 3 of the propositus. (b) C1q was analyzed by western blotting of either normal human plasma (NHP), fresh plasma from the C1q-deficient propositus (P), and purified C1q (C1q) with anti-C1qA mAbs (left column), anti-C1qC mAbs (central column), and anti-C1q pAbs (right column). Each blot was replicated under mild reducing and nonreducing conditions, allowing the detection of the full molecule, A-B and C-C dimers, or A and C single chains. The specific band in the reduced anti-C1qC blot is indicated by a black arrow. Journal of Investigative Dermatology 2014 134, 1152-1154DOI: (10.1038/jid.2013.444) Copyright © 2014 The Society for Investigative Dermatology, Inc Terms and Conditions