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RECQL4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

RECQL4 gene

The RECQL4 gene provides instructions for a RecQ helicase, an enzyme that maintains genome stability by unwinding DNA for replication and repair.

Normal Function

The RECQL4 gene provides instructions for making one member of a protein family called RecQ helicases. Helicases are enzymes that bind to DNA and temporarily unwind the two spiral strands (double helix) of the DNA molecule. This unwinding is necessary for copying (replicating) DNA in preparation for cell division, and for repairing damaged DNA. Because RecQ helicases maintain the structure and integrity of DNA, they are known as the "caretakers of the genome." The RECQL4 protein is particularly important in developing bones and skin, and in enterocytes, which are cells that line the intestine.

Health Conditions Related to Genetic Changes

Baller-Gerold syndrome

Mutations in the RECQL4 gene can prevent the production of the protein or disrupt its function. This may prevent normal DNA replication and repair, causing widespread damage to genetic information. Symptoms include abnormal fusion of skull bones (craniosynostosis), small stature, missing thumbs or forearm bones, and a skin rash.

RAPADILINO syndrome

At least 10 mutations in the RECQL4 gene have been identified in people with RAPADILINO syndrome. A common mutation, IVS7+2delT, causes the protein to be pieced together incorrectly, missing a region called exon 7. The resulting protein lacks helicase activity, which may lead to the accumulation of DNA errors and cell death. Features include radial ray malformations, malformed or missing kneecaps, diarrhea, and short stature.

Rothmund-Thomson syndrome

More than 40 mutations in the RECQL4 gene have been found in people with Rothmund-Thomson syndrome. These mutations likely prevent the production of the protein or lead to a nonfunctional version. A shortage of this protein may cause widespread damage to a person's genetic information over time. Characteristic features include a skin rash, sparse hair, small stature, skeletal abnormalities, and an increased risk of certain cancers.

Other Names for This Gene

  • ATP-Dependent DNA Helicase Q4
  • RecQ helicase-like 4
  • RecQ protein 4
  • RecQ Protein Like 4
  • RecQ protein-like 4
  • RECQ4
  • RECQ4_HUMAN
  • RTS

Frequently Asked Questions

Diagnosis is made by molecular genetic testing, usually targeted sequencing or a multigene panel that includes RECQL4. The test looks for deletions, insertions, or point mutations that disrupt the helicase domain. Results are interpreted by a clinical geneticist and confirmed with parental testing if needed.
Individuals with Rothmund‑Thomson or Baller‑Gerold syndrome have a markedly increased lifetime risk of osteosarcoma, especially in the long bones, and a modestly elevated risk of other sarcomas. Regular orthopedic surveillance with annual X‑rays or MRI of growing bones is recommended after age 5.
Most heterozygous carriers are asymptomatic because one functional copy of RECQL4 is sufficient. However, carriers have a 50 % chance of passing the mutation to each child, so pre‑conception or prenatal genetic counseling is advised to discuss testing options and reproductive choices.
Management focuses on skin protection, growth monitoring, and cancer surveillance. Parents should use sunscreen daily, have dermatology exams every 6‑12 months, obtain bone density scans annually, and undergo whole‑body MRI or targeted bone imaging for early detection of osteosarcoma. Physical therapy can help with skeletal anomalies.
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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