Compound Heterozygous TGM1 Mutations Including a Novel Missense Mutation L204Q in a Mild Form of Lamellar Ichthyosis Masashi Akiyama, Itsuro Matsuo

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Compound Heterozygous TGM1 Mutations Including a Novel Missense Mutation L204Q in a Mild Form of Lamellar Ichthyosis Masashi Akiyama, Itsuro Matsuo Journal of Investigative Dermatology Volume 116, Issue 6, Pages 992-995 (June 2001) DOI: 10.1046/j.0022-202x.2001.01367.x Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical features of a mild form of lamellar ichthyosis and missense mutations L204Q and R306W in TGM1 in the family. During the perinatal period, the facial skin appeared to be normal without ectropion and eclabium (a). At 56 y of age, thick, gray scales are seen only in the abdomen (b), the center of the back (c), and the axillae (d). (e) Pedigree of the family. The proband is indicated with an arrow (3). Genomic DNA samples were studied from the proband (3) and her mother (2). (f) Direct sequence analysis of exon 4 of the proband's DNA reveals a T-to-A transition at codon 204 (L204Q). (g) Direct sequence analysis of exon 6 of the proband's DNA reveals a C-to-T transition at codon 306 (R306W). The mother also has the R306W mutation (data not shown). Journal of Investigative Dermatology 2001 116, 992-995DOI: (10.1046/j.0022-202x.2001.01367.x) Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Reduced in situ TGase 1 activity in the patient's epidermis. Immunolabeling for the TGase 1 molecule is positive, but weak in the patient's epidermis (a), although the TGase 3 molecule is normally expressed in the granular layer in the patient's epidermis (b). An in situ TGase activity assay at pH 8.4 buffer condition shows cytoplasmic and weak membranous TGase activity in the granular layer of the patient's epidermis (c). In control normal epidermis, membranous and cytoplasmic TGase activity is seen in the granular layer (d). At pH 7.4 buffer condition, membranous TGase 1 activity in the upper spinous and granular layers is positive, but weak in the patient's epidermis (e), in contrast with strong TGase 1 activity in normal control epidermis at the same buffer condition (f). At pH 7.4 buffer condition and calpain digestion, membranous TGase 1 activity is positive, but still weaker in the patient's epidermis (g) than that in normal control epidermis (h). (a, b, c, e, g) The patient's skin; (d, f, h), control normal human skin. Anti-TGase 1 antibody immunolabeling (a) and anti-TGase 3 antibody immunolabeling (b) are detected by FITC-conjugated secondary antibody (green), and in situ TGase activity (c, d; pH 8.4 buffer condition: e, f; pH 7.4 buffer condition: g, h; pH 7.4 buffer condition with calpain digestion) is also labeled with FITC (green). Nuclear staining was done with propidium iodide (red). Scale bars: 100 µm. Journal of Investigative Dermatology 2001 116, 992-995DOI: (10.1046/j.0022-202x.2001.01367.x) Copyright © 2001 The Society for Investigative Dermatology, Inc Terms and Conditions