Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings

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• 作者：Jose de Grazia^a ; ^{ja.degrazia@gmail.com} ; Ignacio Delgado^a ; Angel Sanchez-Montanez^a ; Susana Boronat^b ; Miguel del Campo^c ; Elida Vazquez^a
• 关键词：ACTA2 gene ; Cerebrovascular disorders ; Magnetic resonance imaging ; Newborn ; Germline mosaicism
• 刊名：Brain and Development
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：39
• 期：1
• 页码：62-66
• 全文大小：456 K
• 卷排序：39

文摘

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.