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LSM11 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

LSM11 gene

The LSM11 gene is responsible for creating a subunit of the U7 snRNP complex, which is essential for processing histone proteins during DNA replication.

Normal Function

The LSM11 gene provides instructions for making one subunit of the U7 small nuclear ribonucleoprotein (snRNP) complex. This complex is responsible for processing messenger RNA (mRNA), specifically targeting the pre-mRNA of histones. Histones are structural proteins that bind to DNA and are necessary for copying a cell's DNA before it divides (DNA replication).

Health Conditions Related to Genetic Changes

Aicardi-Goutières syndrome

Variants in the LSM11 gene have been identified as a rare cause of Aicardi-Goutières syndrome, a disorder characterized by severe brain dysfunction (encephalopathy), skin lesions, and immune system abnormalities.

The mechanism involves the production of an abnormal U7 snRNP complex that fails to properly process histone pre-mRNA. This leads to several downstream effects:

  • Interference with DNA replication.
  • Production of RNA and DNA fragments within the cell.
  • Accumulation of these fragments, which triggers an immune response.
  • The immune system attacks the body's own tissues and organs, resulting in the symptoms of the syndrome.

Frequently Asked Questions

GS caused by LSM11 follows an autosomal recessive pattern. Both parents are typically carriers of one altered copy of the gene but are asymptomatic. Each subsequent pregnancy has a 25 % chance of being affected, a 50 % chance of the child being an asymptomatic carrier, and a 25 % chance of inheriting two normal copies. Genetic counseling and carrier testing of the parents are recommended before future pregnancies.
Urgent evaluation is needed if the child develops new or worsening neurological symptoms (e.g., seizures, sudden loss of motor skills), severe skin lesions that become infected, fever with no clear source, or signs of respiratory distress. These can indicate acute inflammatory flares or secondary infections that require prompt treatment.
Currently there is no therapy that corrects the underlying LSM11 defect. Management focuses on controlling the immune‑mediated inflammation (often with steroids, JAK inhibitors, or other immunosuppressants) and supportive care for neurological, dermatological, and developmental issues. Participation in clinical trials for AGS is encouraged when available.
Testing is usually done by next‑generation sequencing (NGS) of a targeted gene panel for AGS or whole‑exome sequencing. A peripheral blood sample (5–10 mL in an EDTA tube) is sufficient. In some cases, skin fibroblast or saliva samples may be used if blood is unavailable.
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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