|Classification and external resources|
Legius syndrome (LS) is an autosomal dominant condition characterized by cafe au lait spots. It was first described in 2007 and is often mistaken for neurofibromatosis type I (NF-1), it is caused by mutations in the SPRED1 gene, it is also known as Neurofibromatosis Type 1-like syndrome (NFLS). The condition is a RASopathy, developmental syndromes due to germline mutations in genes
Symptoms and signs
Nearly all individuals show multiple café au lait spots.Features common in neurofibromatosis - Lisch nodules, bone abnormalities, neurofibromas, optic pathway gliomas and malignant peripheral nerve sheath tumors - are absent in this condition Symptoms however, may include:
In terms of the genetics of Legius syndrome one finds the condition is autosomal dominant in regards to inheritance,and caused by mutations to the SPRED1 gene at chromosome 15, specifically 15q14 (or (GRCh38): 15:38,252,086-38,357,248)
In terms of the mechanism of Legius syndrome the Ras-MAPK signaling, which is a chain of proteins in a cell that sends signals to the nucleus of a cell from the surface receptors, can be regulated adversely by SPRED1 protein. When SPRED1 is dysfunctional then this in turn affects the aforementioned pathway, which in turn eventually leads to the physical symptoms created by this condition
Between this condition and NF-1 an important difference is the absence of tumor growths (Lisch nodules and neurofibromas which are common in NF-1) in LS. The symptoms of Legius syndrome and NF-1 are very similar, this is the reason why the two are easily confused. A genetic test is often the only way to make sure a person has LS and not NF-1, the similarity of symptoms stem from the fact that the different genes affected in the two syndromes code for proteins that carry out a similar task in the same reaction pathway.[medical citation needed]
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- "SPRED1", Genetics Home Reference, National Institutes of Health
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