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EFTUD2 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

EFTUD2 gene

The EFTUD2 gene provides instructions for making a component of the spliceosome, a complex that processes messenger RNA (mRNA) to ensure proper protein production.

Normal Function

The EFTUD2 gene provides instructions for making one part (subunit) of two complexes called the major and minor spliceosomes. Spliceosomes help process messenger RNA (mRNA), which is a chemical cousin of DNA that serves as a genetic blueprint for making proteins. The spliceosomes recognize and then remove regions called introns to help produce mature mRNA molecules.

Health Conditions Related to Genetic Changes

Mandibulofacial dysostosis with microcephaly

More than 50 EFTUD2 gene mutations have been identified in people who have mandibulofacial dysostosis with microcephaly (MFDM). This disorder causes malformations of the head and face, intellectual disability, and abnormalities affecting other areas of the body. These abnormalities include esophageal atresia, which is a blockage of the esophagus, and tracheoesophageal fistula, which is an abnormal connection between the esophagus and the trachea that allows fluids from the esophagus to get into the airways and interfere with breathing.

The EFTUD2 gene mutations that cause MFDM result in the production of little or no functional enzyme from one copy of the gene in each cell. A shortage of this enzyme likely impairs mRNA processing. The relationship between these mutations and the specific symptoms of MFDM is not well understood.

Other Names for This Gene

  • 116 kDa U5 small nuclear ribonucleoprotein component
  • elongation factor Tu GTP-binding domain-containing protein 2
  • hSNU114
  • MFDGA
  • MFDM
  • SNRNP116
  • Snrp116
  • Snu114
  • SNU114 homolog
  • U5 snRNP-specific protein, 116 kDa
  • U5-116KD

Frequently Asked Questions

Yes. If a parent is known to carry a pathogenic EFTUD2 variant, prenatal diagnostic testing (chorionic villus sampling at 10‑12 weeks or amniocentesis at 15‑18 weeks) can detect the same mutation in the fetus. Non‑invasive prenatal testing (NIPT) does not currently assess EFTUD2. Prenatal testing is typically discussed during preconception counseling or early pregnancy when there is a confirmed familial mutation.
multidisciplinary team is essential: a clinical geneticist for ongoing counseling, a craniofacial surgeon or otolaryngologist for facial and airway anomalies, a pediatric ENT for hearing loss, a speech‑language pathologist for feeding and speech issues, a gastroenterologist or surgeon for esophageal atresia/tracheoesophageal fistula, and developmental pediatricians or neurologists for neurocognitive support. Early intervention programs, regular audiology assessments, and surgical repair of airway or esophageal defects are core components of management.
MFDM follows an autosomal‑dominant pattern. Most cases arise from a de novo mutation, meaning the parents do not carry the variant. If a parent is found to have the EFTUD2 mutation, each subsequent child has a 50 % chance of inheriting it. If the mutation is de novo, the recurrence risk for siblings is low (<1 %) but not zero due to possible germline mosaicism.
Diagnosis is confirmed by sequencing the EFTUD2 gene from a blood or saliva sample. Pathogenic variants—most often loss‑of‑function mutations such as nonsense, frameshift, or splice‑site changes—are identified using targeted gene panels, exome sequencing, or whole‑genome sequencing. A report indicating a heterozygous pathogenic variant in EFTUD2 confirms MFDM.
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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