title: A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.
abstract: We report the case of a 22-year-old male with autosomal recessive Alport syndrome. Molecular analysis showed that this patient has a homozygous missense (NM_000091.4:c.3266G>A) Gly1089Asp mutation in the COL4A3 gene. The proband inherited the mutation from his heterozygous carrier mother, whereas the father carried only wild-type alleles. We performed comparative genome hybridization and single-nucleotide polymorphism microarray analyses and confirmed that there was partial maternal isodisomy.
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
authors.forename: Xue J
authors.initials: XJ
authors.lastname: Fu
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
authors.forename: Naoya
authors.initials: N
authors.lastname: Morisada
authors.affiliation: Department of Pediatrics, Kakogawa West City Hospital , Yoneda-cho, Kakogawa, Japan.
authors.forename: Fusako
authors.initials: F
authors.lastname: Hashimoto
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
authors.forename: Mariko
authors.initials: M
authors.lastname: Taniguchi-Ikeda
authors.affiliation: Department of Pediatrics, Takatsuki General Hospital , Kosobe-cho, Takatsuki, Japan.
authors.forename: Yuya
authors.initials: Y
authors.lastname: Hashimura
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
authors.forename: Hiromi
authors.initials: H
authors.lastname: Ohtsubo
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Ninchoji
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Kaito
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
authors.forename: Kandai
authors.initials: K
authors.lastname: Nozu
authors.affiliation: Department of Nephrology, Kanagawa Children's Medical Center, Mutsukawa , Minami-ku, Yokohama, Japan.
authors.forename: Eihiko
authors.initials: E
authors.lastname: Takahashi
authors.affiliation: Department of Pediatrics, Wakayama Medical University , Wakayama, Japan.
authors.forename: Koichi
authors.initials: K
authors.lastname: Nakanishi
authors.affiliation: Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University , Kutsukake-cho, Toyoake, Japan.
authors.forename: Hiroki
authors.initials: H
authors.lastname: Kurahashi
authors.affiliation: Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
authors.forename: Kazumoto
authors.initials: K
authors.lastname: Iijima