title: The importance of non-invasive genetic analysis in the initial diagnostics of Alport syndrome in young patients.
abstract: Alport syndrome is an important hereditary disorder characterized by nephritis and sometimes accompanied by impairment or loss of vision and hearing. The most common form of Alport syndrome is an X-linked dominant trait that has been associated with the gene COL4A5, one of the six types of IV collagen genes. More than 300 different mutations have been identified in the COL4A5 gene, and appear randomly along the whole gene. Three novel mutations, G198E, G3189D and G669R, were found in 5 young patients from 3 different Slovenian families. On the basis of the results of our study and the existing national register of Alport syndrome patients, we demonstrated that non-invasive methods, such as the genetic analysis of collagen genes, particularly in the case of young patients with undefined clinical features, may be of great importance and could diminish the need for invasive skin and renal biopsy. Our study showed the importance of molecular genetic data for the purpose of providing quick and precise diagnoses for affected family members and their offspring, particularly small children.
authors.affiliation: Laboratory of Molecular Genetics, Institute of Pathology, Medical Faculty, Korytkova 2, 1000 Ljubljana, Slovenia.
authors.forename: Maja
authors.initials: M
authors.lastname: Slajpah
authors.forename: Anamarija
authors.initials: A
authors.lastname: Meglic
authors.forename: Polonca
authors.initials: P
authors.lastname: Furlan
authors.forename: Damjan
authors.initials: D
authors.lastname: Glavac
mesh_terms: D000367:Age Factors; D002675:Child, Preschool; D003094:Collagen / Q000235:genetics*; D005260:Female; D005821:Genetic Techniques; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000175:diagnosis* / Q000235:genetics*; D010375:Pedigree
chemical_list: D003094:Collagen