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. 2006 Jul 10;203(7):1745–1759. doi: 10.1084/jem.20060085

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Copyright © 2006, The Rockefeller University Press

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Figure 1. — Clinical phenotypes and NEMO genotypes of patients. (A) Pedigrees of three kindreds with NEMO mutations (A, B, and C). Each generation is designated by a Roman numeral, and each individual is designated by an Arabic numeral. Male patients (in black squares) present mycobacterial infections and hemizygous NEMO mutations; asymptomatic female carriers are represented by black dots. The probands are indicated by arrows. (B) The teeth of patient P1 (Kindred A, II.4, sparse teeth), patient P2 (Kindred B, II.1, conical decidual incisors), and patient P3 (Kindred C, II.1, normal teeth). (C) Sequence electrophoregram of NEMO complementary DNA in the region corresponding to the mutation. Kindred A, P1 presents the mutation A→C leading to the replacement at residue 315 of Glu (E) by Ala (A) (E315A). Kindred B, P2 and kindred C, P3 present the mutation G→A resulting in the replacement of an Arg (R) at position 319 by Gln (Q) (R319Q). (D) Schematic representation of the NEMO coding region, from exons 2 to 10, and corresponding domains, shown in dark gray: the coil-coiled domain 1 (CC1, Leu 93 to Gln 194) and coil-coiled domain 2 (CC2, Met 258 to Lys 292), and the leucine zipper (LZ, Tyr 308 to Lys 344) and zinc finger (ZF, Cys 397 to Cys 417) domains. All published hypomorphic NEMO mutations (associated with the various forms of EDA-ID) are represented (reference 43). Missense and nonsense mutations (amino-acid code) are shown on top, whereas splice and frameshift mutations (nucleotide code) are shown on the bottom. NEMO mutations in red represent mutations associated with mycobacterial infections.