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Research
Ectodermal diseases Johannes Zschocke, Anna Schossig, Robert Gruber The identification and characterization of rare genetic diseases affecting skin, skin appendages, and teeth entails  collaborative projects with PD Dr. Ines Kapferer, Department of Dentistry, and Prof. Dr. Matthias Schmuth, Department of Dermatology. One of the research projects is aimed at the characterization of genetic alterations that cause aggressive periodontitis;  this OeNB-funded project is led by Dr. Kapferer who has recruited a Tyrolean 4-generation family with aggressive  periodontitis in conjunction with clinical features of Ehlers-Danlos syndrome (representing an entity traditionally  described as EDS type VIII. Aggressive periodontitis (in contrast to chronic periodontitis) is a rare inflammatory disease  leading to periodontal tissue destruction and, if untreated, tooth loss at a young age. It is caused by a perturbation of the homeostasis between the subgingival microbiota and the host defences in susceptible individuals. EDS VIII is a clinically  heterogeneous disorder characterized by the combination of periodontal disease and variable connective tissue features. A limited number of patients and pedigrees with this condition have been described. The members of the Tyrolean family have been clinically and immunologically characterized, and we performed a parametric linkage analysis and exome  sequencing. At present a candidate gene in the chromosomal region 12p13 is under functional investigation. In  transfected cells the effect of the mutation on the immunologic function and the connective tissue structure is tested. Additional projects include the investigation of the genetic causes of rare dental diseases such as Kohlschütter-Tönz  syndrome, a rare genetic disorder with amelogenesis imperfecta and epilepsy, and radicular dentin dysplasia,  characterized by abnormal dentin formation and early tooth loss due to abnormal development of tooth roots.  Parametric linkage analysis in adequate families is followed by exome sequencing and functional characterization of  candidate mutations. Identification and characterization of inherited skin disorders is the research focus in the collaboration with the  Department of Dermatology, with special attention on inherited disorders of keratinization. In a regular dermatology-  genetics clinic, patients with rare inherited skin conditions receive comprehensive clinical care and diagnostic work-up  involving, where appropriate, an NGS multi gene panel analysis developed in our institute, covering genetic disorders of  keratinization and a selection of connective tissue disorders. Patients with specific phenotypes of unclear, presumably  genetic cause are offered further evaluation by linkage analysis (where appropriate) and exome sequencing as well as  functional studies.  
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