Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation

Toshiki Takenouchi, Masaki Ohyagi, Chiharu Torii, Rika Kosaki, Takao Takahashi, Kenjiro Kosaki

研究成果: Article査読

13 被引用数 (Scopus)

抄録

COL4A1-associated disorders encompass a wide range of hereditary vasculopathy, including porencephaly and HANAC (adult-onset hemorrhagic stroke with cerebral aneurysm and retinal arterial tortuosity, renal cysts, and thenar muscle cramp). It remains elusive whether or not porencephaly and HANAC are molecularly distinctive disorders due to different classes of mutations. We report on a girl with porencephaly and an episode of microangiopathic hemolysis in infancy and her father with HANAC, both of whom had a heterozygous missense mutation of COL4A1 (c.3715G>A, p.G1239R). The current observation implies phenotypic diversities of COL4A1 mutations.

本文言語English
ページ(範囲)156-158
ページ数3
ジャーナルAmerican Journal of Medical Genetics, Part A
167
1
DOI
出版ステータスPublished - 2015 1 1

ASJC Scopus subject areas

  • 遺伝学
  • 遺伝学(臨床)

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