A patient with autosomal recessive Alport syndrome due to segmental maternal isodisomy.

Fu, Xue J; Morisada, Naoya; Hashimoto, Fusako; Taniguchi-Ikeda, Mariko; Hashimura, Yuya; Ohtsubo, Hiromi; Ninchoji, Takeshi; Kaito, Hiroshi; Nozu, Kandai; Takahashi, Eihiko; Nakanishi, Koichi; Kurahashi, Hiroki; Iijima, Kazumoto

Fu, Xue J; Morisada, Naoya; Hashimoto, Fusako; Taniguchi-Ikeda, Mariko; Hashimura, Yuya; Ohtsubo, Hiromi; Ninchoji, Takeshi; Kaito, Hiroshi; Nozu, Kandai; Takahashi, Eihiko; Nakanishi, Koichi; Kurahashi, Hiroki; Iijima, Kazumoto.

Afiliação

Fu XJ; Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
Morisada N; Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
Hashimoto F; Department of Pediatrics, Kakogawa West City Hospital , Yoneda-cho, Kakogawa, Japan.
Taniguchi-Ikeda M; Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
Hashimura Y; Department of Pediatrics, Takatsuki General Hospital , Kosobe-cho, Takatsuki, Japan.
Ohtsubo H; Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
Ninchoji T; Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
Kaito H; Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
Nozu K; Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.
Takahashi E; Department of Nephrology, Kanagawa Children's Medical Center, Mutsukawa , Minami-ku, Yokohama, Japan.
Nakanishi K; Department of Pediatrics, Wakayama Medical University , Wakayama, Japan.
Kurahashi H; Division of Molecular Genetics, Institute for Comprehensive Medical Science, Fujita Health University , Kutsukake-cho, Toyoake, Japan.
Iijima K; Department of Pediatrics, Kobe University Graduate School of Medicine , Chuo-ku, Kobe, Japan.

Hum Genome Var ; 1: 14006, 2014.

Article em En | MEDLINE | ID: mdl-27081500

ABSTRACT

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_000091.4c.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.

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Texto completo: 1 Bases de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Japão