Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Legius syndrome

Neurofibromatosis 1-like syndrome is an autosomal dominant disorder caused by mutations of the SPRED1 gene.

Systematic

Neurofibromatosis
Familial spinal neurofibromatosis
Legius syndrome
SPRED1
Neurofibromatosis 1
Neurofibromatosis-Noonan syndrome
Noonan syndrome 6
Watson syndrome

References:

1.

Brems H et. al. (2007) Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

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2.

Pasmant E et. al. (2009) SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

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3.

Spurlock G et. al. (2009) SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the neurofibromatosis type 1 phenotype.

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4.

Spencer E et. al. (2011) Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

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5.

Laycock-van Spyk S et. al. (2011) Identification of five novel SPRED1 germline mutations in Legius syndrome.

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6.

Brems H et. al. (2012) Review and update of SPRED1 mutations causing Legius syndrome.

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Update: Sept. 26, 2018