title: Porencephaly in a fetus and HANAC in her father: variable expression of COL4A1 mutation.
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.
authors.affiliation: Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan; Center for Medical Genetics, Keio University School of Medicine, Tokyo, Japan.
authors.forename: Toshiki
authors.initials: T
authors.lastname: Takenouchi
authors.forename: Masaki
authors.initials: M
authors.lastname: Ohyagi
authors.forename: Chiharu
authors.initials: C
authors.lastname: Torii
authors.forename: Rika
authors.initials: R
authors.lastname: Kosaki
authors.forename: Takao
authors.initials: T
authors.lastname: Takahashi
authors.forename: Kenjiro
authors.initials: K
authors.lastname: Kosaki
mesh_terms: D000328:Adult; D001483:Base Sequence; D024141:Collagen Type IV / Q000235:genetics*; D005220:Fathers; D005260:Female; D005333:Fetus / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D008969:Molecular Sequence Data; D009120:Muscle Cramp / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D065708:Porencephaly / Q000235:genetics*; D011247:Pregnancy; D011928:Raynaud Disease / Q000235:genetics*; D055815:Young Adult
chemical_list: C547475:COL4A1 protein, human; D024141:Collagen Type IV
keywords: COL4A1; HANAC; Porencephaly