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Porencephaly in a fetus and HANAC in her father: Variable expression of COL4A1 mutation
Author(s) -
Takenouchi Toshiki,
Ohyagi Masaki,
Torii Chiharu,
Kosaki Rika,
Takahashi Takao,
Kosaki Kenjiro
Publication year - 2015
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36823
Subject(s) - porencephaly , missense mutation , phenotype , mutation , schizencephaly , variable expression , pathology , medicine , biology , genetics , anatomy , gene , neuroscience , epilepsy
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. © 2014 Wiley Periodicals, Inc.