title: Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.
abstract: There are current requirements of using genetic databases for offering a better genetic assistance to patients of some syndromes, especially those with X-linked heredity patterns (like Alport Syndrome) for the high probability of having descendants affected by the disease. We describe the first reported case of COL4A5 gene missense c.1499 G>T mutation in a 16-year-old girl confirmed to be affected by Alport Syndrome after genetic counseling. Next Generation Sequencing procedures let discover this mutation and offer an accurate clinical treatment to this patient. Current scientific understanding of genetic syndromes suggests the high importance of updated databases and the inclusion of Variant of Unknown Significance related to clinical cases. All of this updating could enable patients to have a better opportunity of diagnosis and having genetic and clinical counseling. This event is even more important in women planning to start a family to have correct genetic counseling regarding the risk posed to offspring, and allowing the decision to undergo prenatal testing.
authors.affiliation: LORGEN G.P, S.L., Business Innovation Center - BIC/CEEL, Technological area of Health Science, Granada, Spain.
authors.forename: Francisco
authors.initials: F
authors.lastname: Fernandez-Rosado
authors.affiliation: Torrecardenas Hospital, Pediatry and Nephropediatric Service, Almeria, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Campos
authors.affiliation: LORGEN G.P, S.L., Business Innovation Center - BIC/CEEL, Technological area of Health Science, Granada, Spain.|Genetic Identification Laboratory, Legal Medicine and Toxicology Department, Medicine Faculty, University of Granada, Granada, Spain.|GENYO (Pfizer-University of Granada-Andalusian Government Centre for Genomics and Oncological Research), Granada, Spain.
authors.forename: Maria Jesus
authors.initials: MJ
authors.lastname: Alvarez-Cubero
authors.affiliation: Torrecardenas Hospital, Pediatry and Nephropediatric Service, Almeria, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: Ruiz
authors.affiliation: LORGEN G.P, S.L., Business Innovation Center - BIC/CEEL, Technological area of Health Science, Granada, Spain.
authors.forename: Carmen
authors.initials: C
authors.lastname: Entrala-Bernal
mesh_terms: D000293:Adolescent; D024141:Collagen Type IV / Q000235:genetics*; D005260:Female; D005817:Genetic Counseling / Q000592:standards; D014644:Genetic Variation; D006801:Humans; D009394:Nephritis, Hereditary / Q000235:genetics*
chemical_list: C478159:COL4A5 protein, human; D024141:Collagen Type IV
keywords: Alport Syndrome; Next Generation Sequencing; Variant of Unknown Significance; genetic counseling; renal databases