Legius Syndrome - SPRED1

Neurofibromatosis Type 1-like Syndrome, NFLS

Klinische Symptomatik

Patients with Legius Syndrome or Neurofibromatosis type 1-like Syndrome (NFLS) present with the typical signs of neurofibromatosis type 1 (multiple café au lait spots, axillary freckling) in combination with macrocephaly and facial dysmorphisms similar to Noonan Syndrome. Learning difficulties and hyperactivity have also been observed. Thus far, no neurofibromas or tumors of the central nervous system have been found; however, some patients develop kidney cancer in childhood, lipomas, lung cancer, and colon adenomas. NFLS is a differential diagnosis to classical neurofibromatosis type 1, especially in children.

Genetik

Leguis Syndrome is caused by mutations in the SPRED1 gene located on chromosome 15 (15q13.2). SPRED1 belongs to a family of Sprouty/SPRED proteins which regulate the growth factor-regulating activation of the MAP kinase cascade. SPRED1 mutations are an autosomal dominant inheritance.

Häufigkeit

Unknown

 

Diagnostik