RettUK : CDKL5 & FOXG1

CDKL5 (cyclin-dependent kinase-like 5) and FOXG1 (Forkhead box protein G1) are two further proteins that have been found to play a part in brain development. Mutation of these genes, linked to the X chromosone have been shown to lead to Rett-like symptoms.

First described in 2004, there are at present less than 200 cases worldwide of CDKL5 mutation diagnosed, with some, but not all of those showing Rett like symptoms.

FOXG1 has recently discovered links with Rett syndrome. Rett UK are currently funding cutting edge research to identlify the gene mutations of FOXG1

CDKL5 and Facial Similarities (2010) - Leonard, Christodoulou, Wilson, Anderson, Carter, Bebbington. Telethon Institute for Child Health Research, Australia. ONGOING RESEARCH, Click here to participate.

Key Clinical Features to identify girls with CDKL5 mutations (2008) - Bahi-Buisson, Nectoux, Rosas-Vargas, Milh, Boddaert, Girard, Cances, Ville, Afenjar, Rio, Héron, N'guyen Morel, Arzimanoglou, Philippe, Jonveaux,Chelly, Bienvenu.

FOXG1 is responsible for the Congenital Variant of Rett Syndrome (2008) - Ariani, Hayek, Rondinella, Artuso, Mencarelli, Spanhol-Rosseto, Pollazzon, Buoni, Spiga, Ricciardi, Meloni, Longo, Mari, Broccoli, Zappella, Renieri.

Phenotypic variability in Rett syndrome associated with FOXG1 mutations in females (2010) - Philippe C, Amsallem D, Francannet C, Lambert L, Saunier A, Verneau F, Jonveaux P.