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

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.

Causal Variants of the GJB6 Gene are Associated with Hearing Loss and Skin Manifestations:A Case Report from Turkey

Introduction:The gap junction beta 6(GJB6)gene encodes connexin 30.This protein plays critical role in tissues and is responsible for the formation of gap junctions,which have a wide variety of physiological functions.Disease-associated variants of GJB6 cause non-syndromic hearing loss(HL)and skin lesions.We herein describe a Turkish girl who was diagnosed with HL and in whom genetic analysis revealed a causal variant of GJB6.Case presentation:The 1-year-old girl patient was diagnosed with bilateral HL when she was 1 month old.Apart from this,the patient’s motor/mental development and physical examination were normal.As a result of the analysis with the multi-gene panel,the causative genomic change,c.175G>A(p.Gly59Arg)in the GJB6 gene was determined as heterozygous.Segregation analysis proved the same genotype in the patient’s mother and grandfather.The patient’s mother and grandfather had bilateral HL and palmoplantar hyperkeratosis phenotype.The patient was diagnosed with Clouston syndrome,and genetic counseling was provided to her family.Discussion:Causal variants of GJB6 cause skin manifestations and signs of HL.Molecular diagnosis of these patients is a valuable tool for clinicians in reaching their optimal treatment and clinical management.Conclusion:In syndromic cases in which many organs are affected,the determination of the causative gene is important in directing the patients to appropriate observation,screening,and treatment strategies.