TITLE:
C-type lectins and human epithelial membrane protein1: Are they new proteins in keratin disorders?
AUTHORS:
Nilüfer Karadeniz, Thomas Liehr, Kristin Mrasek, Ibrahim Aşık, Zuleyha Aşık, Nadezda Kosyakova, Hasmik Mkrtchyan
KEYWORDS:
Keratins; Palmoplantar Keratoderma; Pachyonychia Congenital Tarda; Lectins; Epithelial Membrane Protein1; Gene Expression and Chromosome Translocation
JOURNAL NAME:
Open Journal of Genetics,
Vol.3 No.4,
December
12,
2013
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.