title: A Novel Mutation in a Japanese Family with X-linked Alport Syndrome.
abstract: We herein report a novel mutation in a Japanese family with an X-linked Alport syndrome (AS) mutation in COL4A5. Patient 1 was a 2-year-old Japanese girl. She and her mother (patient 2) had a history of proteinuria and hematuria without renal dysfunction, deafness, or ocular abnormalities. Pathological findings were consistent with AS, and a genetic analysis revealed that both patients had a heterozygous mutation (c.2767G>C) in exon 32. In summary, the identification of mutations and characteristic pathological findings was useful in making a diagnosis of AS. For a close long-term follow-up, the early detection and treatment of women with X-linked AS are important.
authors.affiliation: Department of Pediatrics, Showa University School of Medicine, Japan.
authors.forename: Yoshifusa
authors.initials: Y
authors.lastname: Abe
authors.forename: Masayuki
authors.initials: M
authors.lastname: Iyoda
authors.forename: Kandai
authors.initials: K
authors.lastname: Nozu
authors.forename: Satoshi
authors.initials: S
authors.lastname: Hibino
authors.forename: Kei
authors.initials: K
authors.lastname: Hihara
authors.forename: Yutaka
authors.initials: Y
authors.lastname: Yamaguchi
authors.forename: Tomohiko
authors.initials: T
authors.lastname: Yamamura
authors.forename: Shogo
authors.initials: S
authors.lastname: Minamikawa
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima
authors.forename: Takanori
authors.initials: T
authors.lastname: Shibata
authors.forename: Kazuo
authors.initials: K
authors.lastname: Itabashi
mesh_terms: D044466:Asian People; D002675:Child, Preschool; D005091:Exons / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D007564:Japan; D008297:Male; D009154:Mutation; D009394:Nephritis, Hereditary / Q000235:genetics* / Q000473:pathology*; D011507:Proteinuria / Q000235:genetics; D055815:Young Adult