Legius syndrome

Source: Wikipedia, the free encyclopedia.
Legius syndrome
Other namesNeurofibromatosis 1-like syndrome
café au lait spots; +/- learning disabilities[2]
Usual onsetat birth
CausesMutations in the SPRED1 gene[3]
Diagnostic methodClinical findings, Genetic test[4]
Differential diagnosisneurofibromatosis type I
TreatmentPhysical therapy, Speech therapy[2][1]
Prognosisgood
Frequencyrare (estimated at 1:46,000-1:75,000)[2]

Legius syndrome (LS) is an

cafe au lait spots.[3] It was first described in 2007 and is often mistaken for neurofibromatosis type I. It is caused by mutations in the SPRED1 gene.[5][6] It is also known as neurofibromatosis type 1-like syndrome.[1]

Symptoms and signs

See also: List of conditions associated with café au lait macules
larger café au lait spot on right forearm

Nearly all individuals with Legius syndrome show multiple

café au lait spots on their skin.[7]
Symptoms may include:[2]

Features common in neurofibromatosis – like

malignant peripheral nerve sheath tumors – are absent in Legius syndrome.[1]

Cause

CHR 15

Legius syndrome is a

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).[10][11] The gene in question demonstrates almost 100 mutations.[1]

Mechanism

A mutated SPRED1 protein adversely regulates Ras-MAPK signaling, which is a chain of proteins in a cell that sends signals from the surface of a cell to the nucleus which in turn causes the symptoms of this condition.[2][12]

Diagnosis

Genetic testing is necessary to identify the syndrome. The DNA test is necessary sometimes, because symptoms may not be sufficient to definitely diagnose this condition.[4][1][13]

Differential diagnosis

The symptoms of Legius syndrome and neurofibromatosis type I are very similar; An important difference between Legius syndrome and neurofibromatosis type I is the absence of tumor growths

neurofibromas which are common in neurofibromatosis type I.[2]

A

genes affected in the two syndromes code for proteins that carry out a similar task in the same reaction pathway.[medical citation needed
]

Treatment

Management of Legius syndrome is done via the following:[2][1]

The prognosis of this condition is generally considered good with appropriate treatment.[citation needed]

See also

References

  1. ^ a b c d e f g RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Legius syndrome". www.orpha.net. Retrieved 2017-06-01.{{cite web}}: CS1 maint: numeric names: authors list (link)
  2. ^
    PMID 20945555
    . Retrieved 1 June 2017.update 2015
  3. ^ a b "Legius syndrome", Genetics Home Reference, National Institutes of Health
  4. ^ a b "Legius syndrome | Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2017-06-01.
  5. ^ "SPRED1", Genetics Home Reference, National Institutes of Health
  6. ^ "Legius Syndrome Often Mistaken for Neurofibromatosis Type 1", by Allison Gandley, November 18, 2009, Medscape
  7. ^ a b "OMIM Entry - # 611431 - LEGIUS SYNDROME". omim.org. Retrieved 2017-06-01.
  8. S2CID 4107835
    .
  9. PMID 19467855
    .
  10. ^ "OMIM Entry - * 609291 - SPROUTY-RELATED EVH1 DOMAIN-CONTAINING PROTEIN 1; SPRED1". www.omim.org. Retrieved 2017-06-01.
  11. ^ "Homo sapiens sprouty related EVH1 domain containing 1 (SPRED1), RefSeq - Nucleotide - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-06-01.
  12. PMID 17409820
    .
  13. ^ "SPRED1 sprouty related EVH1 domain containing 1 - Gene - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2017-06-01.
  14. PMID 36971690
    .

Further reading

External links
Scholia has a topic profile for Legius syndrome.
Retrieved from "https://en.wikipedia.org/w/index.php?title=Legius_syndrome&oldid=1219017245"