title: Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings.
abstract: Mutations in the ACTA2 gene lead to a multisystemic smooth muscle dysfunction syndrome that causes vascular disease, congenital mydriasis, and variable presentation of urinary and gastrointestinal problems. The heterozygous Arg179 mutation is associated with a distinctive cerebrovascular phenotype. We report the cases of two newborn siblings with heterozygous ACTA2 Arg179Cys substitution and provide neuroimaging exams that demonstrate the distinctive cerebrovascular phenotype, also associated with variable degree of hypoplasia of the vertebro-basilar circulation as well as hypoxic-ischemic lesions.
authors: Servicio de Radiología Pediátrica, Hospital Universitario Vall d'Hebron, Barcelona, Spain. Electronic address: ja.degrazia@gmail.com.
authors: Jose
authors: J
authors: de Grazia
authors: Servicio de Radiología Pediátrica, Hospital Universitario Vall d'Hebron, Barcelona, Spain.
authors: Ignacio
authors: I
authors: Delgado
authors: Servicio de Radiología Pediátrica, Hospital Universitario Vall d'Hebron, Barcelona, Spain.
authors: Angel
authors: A
authors: Sanchez-Montanez
authors: Servicio de Neurología Pediátrica, Hospital Universitario Vall d'Hebron, Barcelona, Spain.
authors: Susana
authors: S
authors: Boronat
authors: Servicio de Genética, Hospital Universitario Vall d'Hebron, Barcelona, Spain.
authors: Miguel
authors: M
authors: Del Campo
authors: Servicio de Radiología Pediátrica, Hospital Universitario Vall d'Hebron, Barcelona, Spain.
authors: Elida
authors: E
authors: Vazquez
mesh_terms: D000199:Actins / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging*; D002533:Cerebral Angiography; D002561:Cerebrovascular Disorders / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000628:therapy; D003428:Cross Infection / Q000150:complications; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D021621:Imaging, Three-Dimensional; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation; D035781:Siblings
chemical_list: C541116:ACTA2 protein, human; D000199:Actins
keywords: ACTA2 gene; Cerebrovascular disorders; Germline mosaicism; Magnetic resonance imaging; Newborn