Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M

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A Novel Missense Mutation in CYLD in a Family with Brooke–Spiegler Syndrome Guofang Hu, Meltem Önder, Melissa Gill, Burhan Aksakal, Murat Öztas, M. Ali Gürer, Jülide Tok Çelebi, MD Journal of Investigative Dermatology Volume 121, Issue 4, Pages 732-734 (October 2003) DOI: 10.1046/j.1523-1747.2003.12514.x Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 1 Clinical data and genetic analysis of the family with BSS. (a) Biopsy-proven multiple trichoepitheliomas on the nose, nasolabial folds, and the upper lip. (b) DNA sequence of exon 16 of CYLD from control and affected individuals. (c) The alignment of human CYLD protein (amino acids 741–752) and its orthologs. The conservation of glutamic acid (E) at codon 747 is indicated. (d) The figure shows MnlI digestion of the PCR samples, which cleaves the wild-type allele in 249- and 113-bp fragments. The mutation E747G abolishes the MnlI site, and therefore the mutant allele does not cleave and shows the intact 362-bp PCR product. Journal of Investigative Dermatology 2003 121, 732-734DOI: (10.1046/j.1523-1747.2003.12514.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions

Figure 2 Pedigree of the family. For individuals whose DNA samples have been analyzed, the allele sequences at codon 747 have been indicated as E (glutamic acid) or G (glycine). The unaffected persons encode for an E on both alleles (E/E), whereas the affected persons are heterozygous for the mutation and encode a G on the mutant allele (E/G). Journal of Investigative Dermatology 2003 121, 732-734DOI: (10.1046/j.1523-1747.2003.12514.x) Copyright © 2003 The Society for Investigative Dermatology, Inc Terms and Conditions