Article
A novel truncating mutation in FLNA causes periventricular nodular heterotopia, Ehlers-Danlos-like collagenopathy and macrothrombocytopenia.
Brain & development - 1 Jun 2018
Ieda Daisuke, Hori Ikumi, Nakamura Yuji, Ohshita Hironori, Negishi Yutaka, Shinohara Tsutomu, Hattori Ayako, Kato Takenori, Inukai Sachiko, Kitamura Katsumasa, Kawai Tomoki, Ohara Osamu, Kunishima Shinji, Saitoh Shinji
Abstract excerpt
INTRODUCTION: Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently been shown to additionally have Ehlers-Danlos-like collagenopathy or macrothrombocytopenia. In an...
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