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

Am J Med Genet A. 2015 Jan;167A(1):156-8. doi: 10.1002/ajmg.a.36823. Epub 2014 Nov 25.

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.

Keywords: COL4A1; HANAC; Porencephaly.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Base Sequence
  • Collagen Type IV / genetics*
  • Fathers*
  • Female
  • Fetus / abnormalities*
  • Humans
  • Infant
  • Infant, Newborn
  • Magnetic Resonance Imaging
  • Male
  • Molecular Sequence Data
  • Muscle Cramp / genetics*
  • Mutation / genetics*
  • Pedigree
  • Porencephaly / genetics*
  • Pregnancy
  • Raynaud Disease / genetics*
  • Young Adult

Substances

  • COL4A1 protein, human
  • Collagen Type IV

Supplementary concepts

  • Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps