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

International Journal of Dermatology and Venereology 2022年第3期5卷 166-168页

作者： Neslihan Duzkale Gamze Tas Aygar Kemal Keseroglu Murad Mutlu Mehmet Birol Ugur Department of Medical Genetic Diskapi Yildirim Beyazit Training and Research HospitalAltindagAnkara 06110Turkey Department of Dermatology Diskapi Yildirim Beyazit Training and Research HospitalAnkaraTurkey Department of Otorhinolaryngology Diskapi Yildirim Beyazit Training and Research HospitalAnkaraTurkey Department of Otorhinolaryngology Gazi UniversitySchool of MedicineBestepeAnkaraTurkey

Introduction:The gap junction beta 6(GJB6)gene encodes connexin *** protein plays critical role in tissues and is responsible for the formation of gap junctions,which have a wide variety of physiological ***-associated variants of GJB6 cause non-syndromic hearing loss(HL)and skin *** herein describe a Turkish girl who was diagnosed with HL and in whom genetic analysis revealed a causal variant of *** presentation:The 1-year-old girl patient was diagnosed with bilateral HL when she was 1 month *** from this,the patient’s motor/mental development and physical examination were *** a result of the analysis with the multi-gene panel,the causative genomic change,c.175G>A(***59Arg)in the GJB6 gene was determined as *** analysis proved the same genotype in the patient’s mother and *** patient’s mother and grandfather had bilateral HL and palmoplantar hyperkeratosis *** patient was diagnosed with Clouston syndrome,and genetic counseling was provided to her ***:Causal variants of GJB6 cause skin manifestations and signs of *** diagnosis of these patients is a valuable tool for clinicians in reaching their optimal treatment and clinical ***: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.

关键词： hearing loss GJB6 palmoplantar keratoderma Clouston syndrome

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

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Open Journal of Genetics 2013年第4期3卷 262-269页

作者： Nilufer Karadeniz Thomas Liehr Kristin Mrasek Ibrahim Asik Zuleyha Asik Nadezda Kosyakova Hasmik Mkrtchyan Medical Genetics of Zubeyde Hanim Maternity Hospital AnkaraTurkey Jena University Hospital Institute of Human GeneticsKollegiengasseJenaGermany Department of Anaesthesiology and Intensive Care Faculty of MedicineUniversity of AnkaraAnkaraTurkey Dermatology of Dr Sami Ulus Children’s Hospital AnkaraTurkey

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.

关键词： Keratins palmoplantar keratoderma Pachyonychia Congenital Tarda Lectins Epithelial Membrane Protein1 Gene Expression and Chromosome Translocation

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