Most Common Autosomal Dominant Disorders in Clinical Practice, a Review

Autosomal dominant disorders occur when only one defective copy of an autosomal gene required to cause disease. As a result, affected individuals have one normal and one mutated allele. A parent with an autosomal dominant condition has a 50% chance of having a child with the condition. Therefore, disorders can be inherited from one affected parent who also has one defective copy of the gene, or can occur sporadically as a result of a new mutation in a patient with no family history. In is this review, we aimed to discuss clinical features, disease-related gene product, diagnosis and treatment of most common autosomal dominant disorders, such as Achodrplasia, Adult polycystic kidney disease, Charcot-Marie-Tooth, Familial Hypercholesterolaemia, Hereditary Haemorrhagic Telangiectasia, Marfan syndrome, Osteogenesis imperfecta, Otosclerosis, Porphyrias and Von Willebrand disease.

Keywords: Achondroplasia, Otosclerosis, Marfan syndrome, Osteogenesisimperfecta, Von Willebrand disease.