Legius syndrome

Definition:

Legius syndrome (LS) is a mild neurofibromatosis type 1-like syndrome. Multiple cafe-au-lait spots and macrocephaly are present. LS is caused by germline loss-of-function SPRED1 mutations. SPRED1 is a negative regulator of the MAPK signalling cascade by suppressing Raf phosphorylation.

References:

[1]. Hilde Brems, et al. Review and update of SPRED1 mutations causing Legius syndrome. Hum Mutat. 2012 Nov;33(11):1538-46. [Content Brief]

[2]. S Laycock-van Spyk, et al. Identification of five novel SPRED1 germline mutations in Legius syndrome. Clin Genet. 2011 Jul;80(1):93-6. [Content Brief]

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