Mutations in the human KINDLIN3 gene and the effect on mRNA and protein levels. (A-B) Alignment of the DNA sequence surrounding the 2 base changes (bold) in exons 8 and 11 of the KINDLIN3 gene of the LAD-III patient, her mother, and control. The original sequencing data are shown below. Reference genomic data from University of California Santa Cruz (chr11:64 250 959-64 269 504). (C) Taqman analysis of KINDLIN3 mRNA levels of mother and patient leukocytes compared with control leukocytes. Each mRNA sample was tested in quadruplicate and prepared twice or more with similar results. (D) Expression of kindlin-3 protein was absent in the patient (P), but present in mother (M) and control (C) T lymphoblasts as assessed by Western blotting (each sample tested twice; n = 2).