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SPRED1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SPRED1 Gene

The SPRED1 gene produces a protein that regulates cell growth and division; mutations in this gene are the cause of Legius syndrome.

Overview

The SPRED1 gene, also known as sprouty related EVH1 domain containing 1, is located on chromosome 15. It provides instructions for making the Spred-1 protein, which plays a critical role in controlling the Ras/MAPK signaling pathway.

Normal Function

The Ras/MAPK pathway is involved in several key cellular processes, including:

  • Proliferation: The growth and division of cells.
  • Differentiation: The process by which cells mature to carry out specific functions.
  • Cell movement.
  • Apoptosis: The self-destruction of cells.

The Spred-1 protein functions by binding to a protein called Raf, which is part of the Ras/MAPK pathway. This binding blocks the activation of Raf, effectively stopping the signaling through the remainder of the pathway.

Health Conditions Related to Genetic Changes

Legius Syndrome

Mutations in the SPRED1 gene cause Legius syndrome. This condition is characterized by multiple café-au-lait spots, which are flat patches on the skin that are darker than the surrounding area.

Several mutations have been identified throughout the SPRED1 gene. These mutations typically lead to a nonfunctional Spred-1 protein, often because the mutated gene provides instructions for a shortened protein. When the Spred-1 protein is nonfunctional, it is unable to bind and block the activation of the Raf protein. Consequently, the Ras/MAPK pathway remains continuously active. It is currently unclear how these specific mutations lead to the signs and symptoms of Legius syndrome.

Other Names for This Gene

  • EVH1/Sprouty domain containing protein
  • FLJ33903
  • hSpred1
  • NFLS
  • PPP1R147
  • SPRE1_HUMAN
  • spred-1
  • sprouty related, EVH1 domain containing 1
  • sprouty-related, EVH1 domain containing 1
  • sprouty-related, EVH1 domain-containing protein 1
  • suppressor of Ras/MAPK activation

Frequently Asked Questions

There is no specific cure for Legius syndrome, and treatment is primarily focused on managing symptoms and monitoring for potential complications. This often involves regular skin examinations, developmental assessments for learning or behavioral issues, and general health monitoring. Genetic counseling is also recommended for affected individuals and their families to understand the inheritance pattern and reproductive options.
Legius syndrome is inherited in an autosomal dominant pattern. This means that if one parent has a SPRED1 gene mutation, there is a 50% chance that each child they have will inherit the mutation and develop Legius syndrome. The severity of symptoms can vary even within the same family.
Legius syndrome is typically diagnosed based on clinical features, primarily the presence of multiple café-au-lait spots. Genetic testing for mutations in the SPRED1 gene is used to confirm the diagnosis and differentiate it from Neurofibromatosis type 1 (NF1), which also causes café-au-lait spots but involves different genes and often more severe complications. A doctor may also look for other subtle signs, as Legius syndrome generally lacks the neurofibromas, Lisch nodules, or bone abnormalities often seen in NF1.
While Legius syndrome is generally considered a milder condition than NF1, some individuals may experience other features. These can include learning difficulties, attention-deficit/hyperactivity disorder (ADHD), macrocephaly (larger than average head size), and a predisposition to freckling in the armpits or groin. It's important to have regular medical check-ups to monitor for any potential complications, though serious health issues are rare.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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