title: A Novel Mutation in a Kazakh Family with X-Linked Alport Syndrome.
abstract: Alport syndrome is a genetic condition that results in hematuria, progressive renal impairment, hearing loss, and occasionally lenticonus and retinopathy. Approximately 80% of Alport syndrome cases are caused by X-linked mutations in the COL4A5 gene encoding type IV collagen. The objective of this study was to define the SNP profiles for COL4A5 in patients with hereditary nephritis and hematuria. For this, we examined four subjects from one Kazakh family clinically affected with X-linked Alport syndrome due to COL4A5 gene mutations. All 51 exons of the COL4A5 gene were screened by linkage analysis and direct DNA sequencing, resulting in the identification of a novel mutation (G641E) in exon 25. The mutation was found only in two affected family individuals but was not present in healthy family members or 200 unrelated healthy controls. This result demonstrates that this novel mutation is pathogenic and has meaningful implications for the diagnosis of patients with Alport syndrome.
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan.
authors.forename: Barshagul T
authors.initials: BT
authors.lastname: Baikara
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan.
authors.forename: Elena V
authors.initials: EV
authors.lastname: Zholdybayeva
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan; Center for Sciences, Nazarbayev University, Astana, Kazakhstan.
authors.forename: Saule E
authors.initials: SE
authors.lastname: Rakhimova
authors.affiliation: National Research Center for Maternal and Child Health, Astana, Kazakhstan.
authors.forename: Nazym B
authors.initials: NB
authors.lastname: Nigmatullina
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan.
authors.forename: Kuvat T
authors.initials: KT
authors.lastname: Momynaliev
authors.affiliation: National Center for Biotechnology, Astana, Kazakhstan; School of Science and Technology, Nazarbayev University, Astana, Kazakhstan.
authors.forename: Yerlan M
authors.initials: YM
authors.lastname: Ramanculov
mesh_terms: D000328:Adult; D002648:Child; D024141:Collagen Type IV / Q000235:genetics*; D005091:Exons; D005190:Family; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D007623:Kazakhstan; D008297:Male; D008875:Middle Aged; D009394:Nephritis, Hereditary / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D055815:Young Adult
chemical_list: C478159:COL4A5 protein, human; D024141:Collagen Type IV