Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2 Elina Virolainen, Maija Wessman, Iiris Hovatta,

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Assignment of a Novel Locus for Autosomal Recessive Congenital Ichthyosis to Chromosome 19p13.1-p13.2 Elina Virolainen, Maija Wessman, Iiris Hovatta, Kirsti-Maria Niemi, Jaakko Ignatius, Juha Kere, Leena Peltonen, Aarno Palotie The American Journal of Human Genetics Volume 66, Issue 3, Pages 1132-1137 (March 2000) DOI: 10.1086/302813 Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 1 Pedigree and haplotypes of the family with nonlamellar, nonerythrodermic ARCI linked to chromosome 19. Persons marked with an asterisk (*) were included in the genome scan. Ages of the affecteds are as follows: patient 5: 54 years old, patient 6: 12 years old, patient 7: 11 years old, patient 8: 8 years old, and patient 9: 17 years old. The American Journal of Human Genetics 2000 66, 1132-1137DOI: (10.1086/302813) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 2 A, Skin of patient 6 (8 years old at time of photograph). On the dorsal aspects of the upper arms, fine, white, nonlamellar scaling is seen, demonstrating the mildness of scaling. Erythrodermia is not present. B, The palms of patient 6 show hyperkeratotic, hyperlinear skin. Papules on the volar surface of the wrist are a consequence of atopic dermatitis. The American Journal of Human Genetics 2000 66, 1132-1137DOI: (10.1086/302813) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 3 Electron micrograph of two cells of the epidermis of patient 6. Between the granular and keratin layer, in the keratinization line, there are pathological vacuolated keratinosomes without lamellar structures. Above the keratinization line, inside the horny cell, there is one lipid vacuole with some remnants of lamellar structures (original magnification × 25,000). The American Journal of Human Genetics 2000 66, 1132-1137DOI: (10.1086/302813) Copyright © 2000 The American Society of Human Genetics Terms and Conditions

Figure 4 Order of loci and approximate distances between the loci on chromosome 19p13.1-p13.2. Markers were obtained from the Genome Database. The order and the distances of the physical map are based on metric physical map of chromosome 19 created by the Human Genome Center (Lawrence Livermore National Laboratory), whereas the genetic distances are based on a genetic map of chromosome 19 created by the Center for Medical Genetics (Marshfield Medical Research Foundation). The precise location of the marker D19S923 is unknown. The American Journal of Human Genetics 2000 66, 1132-1137DOI: (10.1086/302813) Copyright © 2000 The American Society of Human Genetics Terms and Conditions