Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore

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Transglutaminase 1 Gene Mutations in Italian Patients with Autosomal Recessive Lamellar Ichthyosis Gabriella Esposito, Giuseppe Rescigno, Francesco Salvatore Journal of Investigative Dermatology Volume 116, Issue 5, Pages 809-812 (May 2001) DOI: 10.1046/j.1523-1747.2001.01314.x Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Genotypes of families I–VI with the microsatellite markers D14S64, TGM1, and D14S264. Squared haplotypes in families I and II indicate the mutated chromosome. Double horizontal bar denotes a consanguineous marriage. Haplotype numbers are coded. Journal of Investigative Dermatology 2001 116, 809-812DOI: (10.1046/j.1523-1747.2001.01314.x) Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Molecular analysis of mutations V518M and E520G in family I. (A) Sequence detection. Subject LI I.2 (father) is heterozygous for both mutations (arrows to the left). Affected patient (LI I.3) is homozygous for E520G, while mother (LI I.1) is heterozygous. “Control” corresponds to the normal sequence. (B) ARMS analysis. “Control” indicates the internal control of the amplification reactions; N: reactions performed using ARMS primers that amplify normal alleles. M: reactions performed using ARMS primers that amplify alleles corresponding to the analyzed mutations. C: normal DNA for the analyzed mutations. E520G mutation analysis (left): LI I.3: affected subject, homozygous for the mutation; LI I.1: heterozygote. V518M mutation analysis (right): LI I.2: heterozygote for the mutation. Journal of Investigative Dermatology 2001 116, 809-812DOI: (10.1046/j.1523-1747.2001.01314.x) Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 3 Localization of TGase 1 activity in cryostat sections of skin. Assays were performed in the presence of Ca2+ at pH 7.4, a value at which TGase 3 is inactive (original magnification × 400). (a) In normal human skin, the bright band at the top of the figure represents TGase 1 activity that is confined to the granular layer, whereas the fainter signal that is confined mostly to the basement membrane zone is due to TGase 2. (b) In patient LI I.3, the band corresponding to the TGase 1 activity is very faint. Journal of Investigative Dermatology 2001 116, 809-812DOI: (10.1046/j.1523-1747.2001.01314.x) Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 4 Molecular analysis of the mutation S272P in family II. (A) Sequence analysis: the T-to-C transition (arrow) causing the S272P change is at the heterozygous state in the “mutated” sequence. “Control” corresponds to a normal sequence. (B) ARMS analysis of the S272P mutation. LI II.1, LI II.3, and LI II.4 are, respectively, mother, affected daughter and her unaffected brother, all carriers of the mutation. Journal of Investigative Dermatology 2001 116, 809-812DOI: (10.1046/j.1523-1747.2001.01314.x) Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions