Article
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
European journal of human genetics : EJHG - 1 Mar 2016
Oda Hirotsugu, Sato Tatsuhiro, Kunishima Shinji, Nakagawa Kenji, Izawa Kazushi, Hiejima Eitaro, Kawai Tomoki, Yasumi Takahiro, Doi Hiraku, Katamura Kenji, Numabe Hironao, Okamoto Shinya, Nakase Hiroshi, Hijikata Atsushi, Ohara Osamu, Suzuki Hidenori, Morisaki Hiroko, Morisaki Takayuki, Nunoi Hiroyuki, Hattori Seisuke, Nishikomori Ryuta, Heike Toshio
Abstract excerpt
Loss-of-function mutations in filamin A (FLNA) cause an X-linked dominant disorder with multiple organ involvement. Affected females present with periventricular nodular heterotopia (PVNH), cardiovascular complications, thrombocytopenia and Ehlers-Danlos syndrome. These mutations are typically lethal to males, and rare male survivors suffer from failure to thrive, PVNH, and severe cardiovascular and...
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