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

LIFR gene

The LIFR gene provides instructions for a receptor protein that regulates critical cellular processes, including bone formation and nervous system development.

Normal Function

The LIFR gene provides instructions for making the leukemia inhibitory factor receptor (LIFR) protein. This receptor spans the cell membrane, allowing it to bind to ligands outside the cell and transmit signals that help the cell respond to its environment. LIFR acts as a receptor for leukemia inhibitory factor (LIF) and other ligands, controlling processes such as cell growth, division, maturation, and survival.

Beyond its role in inhibiting the growth of blood cancer cells, LIFR signaling is essential for:

  • Formation of bone.
  • Development of nerve cells.
  • Normal functioning of the autonomic nervous system, which regulates involuntary processes like breathing rate and body temperature.

Health Conditions Related to Genetic Changes

Stüve-Wiedemann syndrome

At least 27 mutations in the LIFR gene have been identified as causes of Stüve-Wiedemann syndrome, a severe and often life-threatening condition in infancy. The condition is characterized by:

  • Abnormally curved (bowed) legs.
  • Breathing problems.
  • Episodes of dangerously high body temperature (hyperthermia).
  • Low bone mineral density (osteopenia) and skeletal abnormalities.

Most mutations prevent the production of functional LIFR protein, impairing signaling pathways. This disruption leads to abnormal bone growth and improper development of the autonomic nervous system, resulting in the syndrome's characteristic feeding, breathing, and temperature regulation difficulties.

Other Names for This Gene

  • CD118
  • CD118 antigen
  • leukemia inhibitory factor receptor alpha
  • leukemia inhibitory factor receptor precursor
  • LIF receptor
  • LIF-R
  • SJS2
  • STWS
  • SWS

Frequently Asked Questions

Yes, prenatal testing is possible if the specific LIFR mutations in the family have already been identified through carrier screening. Prenatal diagnostic procedures, such as chorionic villus sampling (CVS) in the first trimester or amniocentesis in the second trimester, can test fetal DNA directly. Additionally, routine second-trimester anatomy ultrasounds often reveal early structural clues, such as bowed femurs and tibias (campomelia), shortened long bones, and hypomineralization, prompting genetic investigation.
Mutations in the LIFR gene impair the normal signaling required for autonomic nervous system development, preventing the body from regulating its internal temperature properly. When these infants develop hyperthermia, their body temperature can spike rapidly to life-threatening levels, often without an active infection. Management requires vigilant core temperature monitoring, prompt physical cooling measures (such as cooling blankets, tepid sponge baths, and removal of clothing), maintaining a cool room environment, and avoiding over-bundling, as antipyretic medications like acetaminophen may not be fully effective for dysautonomic temperature spikes.
Stüve-Wiedemann syndrome caused by LIFR gene mutations is inherited in an autosomal recessive pattern. This means an affected individual inherits two mutated copies of the gene, one from each parent. Parents of an affected child are typically asymptomatic carriers who have a 25 percent chance in each subsequent pregnancy of having another child with the condition, a 50 percent chance of having an asymptomatic carrier child, and a 25 percent chance of having an unaffected child with two normal copies of the gene.
Because the LIFR gene affects autonomic and motor nerve development, infants frequently exhibit poor suck and swallow coordination, absent corneal reflexes, severe tongue thrusting, and gastroesophageal reflux, placing them at high risk for aspiration pneumonia. Respiratory distress and paradoxical breathing can also occur due to chest wall rigidity, micrognathia, or abnormal respiratory drive. Many infants require specialized feeding interventions, such as nasogastric tubes or gastrostomy tubes, along with supplemental oxygen or non-invasive mechanical ventilation.
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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