Figure 1.
CYBB mutations encoding Q231P and T178 substitutions in XR-MSMD-2. (a) Pedigrees of the families with XR-MSMD-2, including only those selected for the X-chromosome scan. I–V (left margin) indicate generations; black symbols indicate patients with BCG disease (P2–P7); gray symbols indicate patients with tuberculosis (P1 and H1); arrows indicate probands; black dots indicate heterozygous female subjects (n = 15); vertical bars indicate the two founders who must have carried the CYBB mutation but did not show any mycobacterial phenotype; ‘E?’ indicates those whose genetic status could not be evaluated; white indicates all other family members (wild-type CYBB). (b) Automated sequencing profile showing the CYBB mutations encoding the Q231P and T178P substitutions in cDNA extracted from EBV-B cells from patients (P) and a control (C+). The mutations were confirmed in genomic DNA and cDNA for seven patients. (c) Topology model of gp91phox regions corresponding to the extracellular (EC), transmembrane (TM) and intracellular (IC) regions. Q231P is in the third extracellular loop and T178P is in the transmembrane region (red dots).