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

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

研究成果: Article査読

3 被引用数 (Scopus)

抄録

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.3266G4A) 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.

本文言語English
論文番号14006
ジャーナルHuman Genome Variation
1
DOI
出版ステータスPublished - 2014

All Science Journal Classification (ASJC) codes

  • 生化学
  • 分子生物学
  • 遺伝学

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