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

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)156-158
Number of pages3
JournalAmerican Journal of Medical Genetics, Part A
Volume167
Issue number1
DOIs
Publication statusPublished - 2015 Jan 1

Keywords

  • COL4A1
  • HANAC
  • Porencephaly

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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