Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Legius-Syndrom

Das Neurofibromatose-ähnliches Syndrom ist eine autosomal dominante Erkrankung, die durch Mutationen im SPRED1-Gen hervorgerufen wird.

Gliederung

Neurofibromatose
Legius-Syndrom
SPRED1
Neurofibromatose 1
Neurofibromatose-Noonan-Syndrom
Spinale Form der Neurofibromatose
Watson-Syndrome

Referenzen:

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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