C-type lectins and human epithelial membrane protein1: Are they new proteins in keratin disorders?

Nilüfer Karadeniz, Thomas Liehr, Kristin Mrasek, Ibrahim Aşık, Zuleyha Aşık, Nadezda Kosyakova, Hasmik Mkrtchyan

Department of Anaesthesiology and Intensive Care, Faculty of Medicine, University of Ankara, Ankara, Turkey.
Dermatology of Dr Sami Ulus Children’s Hospital, Ankara, Turkey.
Jena University Hospital, Institute of Human Genetics, Kollegiengasse, Jena, Germany.
Medical Genetics of Zubeyde Han?m Maternity Hospital, Ankara, Turkey.

DOI: 10.4236/ojgen.2013.34029                

Abstract

Here we report a family with a clinical spectrum of Pachyonychia Congenita Tarda (PCT) encompassing two generations via a balanced chromosomal translocation between 4q26 and 12p12.3. We discuss the effects of chromosomal translocations on gene expression through involved breakpoints and structural gene abnormalities detected by array CGH. We believe that the family we present gives further insight to the better understanding of molecular and structural basis of keratin disorders, and to the late onset and genetic basis of PCT through the possible role of C-type lectins and human epithelial membrane protein1 (EMP1). Better understanding of the molecular basis of keratin disorders is the foundation for improved diagnosis, genetic counseling and novel therapeutic approaches to overcome the current treatment limitations related to this disease.

Keywords

Keratins; Palmoplantar Keratoderma; Pachyonychia Congenital Tarda; Lectins; Epithelial Membrane Protein1; Gene Expression and Chromosome Translocation

Conflicts of Interest

The authors declare no conflicts of interest.

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