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SPRED1 and Legius Syndrome 

SPRED1 and Legius Syndrome
Chapter:
SPRED1 and Legius Syndrome
Author(s):

Hilde Brems

, Ludwine Messiaen

, and Eric Legius

DOI:
10.1093/med/9780199934522.003.0085
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date: 26 February 2021

Legius syndrome, a member of the RASopathies, is an autosomal dominant disorder caused by inactivating mutations in the SPRED1 gene. Loss-of-function mutations in SPRED1, a negative regulator of the Ras/MAPK pathway and interaction partner of neurofibromin, result in over-activation of this pathway. Individuals with Legius syndrome present with a mild neurofibromatosis type 1 (NF1)-like phenotype. The major clinical features include café-au-lait maculae associated with or without intertriginous freckling. Other NF1-associated signs and symptoms are systematically absent, except for learning and/or attention deficits. Legius syndrome has not been associated with an increased frequency of specific tumors as seen in NF1 individuals. Individuals without an NF1 mutation but with multiple café-au-lait spots with or without freckling, no other NF1-related criteria and a familial history of café-au-lait spots have the highest likelihood of harboring a SPRED1 mutation. It has been estimated that 2% of individuals with a clinical diagnosis of NF1 will have Legius syndrome.

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