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DYNC2H1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DYNC2H1 gene

The DYNC2H1 gene is responsible for the dynein-2 complex, a motor protein essential for intraflagellar transport within cilia and proper bone development.

Normal Function

The DYNC2H1 gene provides instructions for making a protein that is part of a group (complex) of proteins called dynein-2. The dynein-2 complex is found in cell structures known as cilia. Dynein-2 is involved in a process called intraflagellar transport (IFT), by which materials are carried within cilia. Specifically, dynein-2 is a motor that uses energy from the molecule ATP to power the transport of materials from the tip of cilia to the base.

IFT is essential for the assembly and maintenance of cilia. These cell structures play central roles in many different chemical signaling pathways, including the Sonic Hedgehog pathway, which is essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone.

Health Conditions Related to Genetic Changes

Asphyxiating thoracic dystrophy

More than 50 mutations in the DYNC2H1 gene have been identified in people with asphyxiating thoracic dystrophy, an inherited disorder of bone growth characterized by a small chest, short ribs, and shortened bones in the arms and legs. The dynein-2 complex made with the altered protein cannot function normally, which disrupts IFT from the tip of cilia to the base. Researchers speculate that these changes in IFT alter signaling pathways, including the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth.

Other disorders

Mutations in the DYNC2H1 gene have also been found to cause two other disorders of bone growth:

  • Short-rib polydactyly syndrome type II (SRPS type II), also known as Majewski syndrome.
  • Short-rib polydactyly syndrome type III (SRPS type III), also known as Verma-Naumoff syndrome or Saldino-Noonan syndrome.

These disorders have signs and symptoms similar to those of asphyxiating thoracic dystrophy, but tend to be more severe, and affected individuals usually die before or shortly after birth.

Other Names for This Gene

  • DHC1b
  • DHC2
  • DYH1B
  • dynein, cytoplasmic 2, heavy chain 1
  • hdhc11

Frequently Asked Questions

DNA test (whole‑exome or targeted gene panel) is performed on a blood sample. The laboratory looks for pathogenic variants in the DYNC2H1 gene. A positive result is usually followed by a review of the specific mutation to assess its impact on protein function.
Parents often notice a small chest, short ribs, and unusually short limbs during routine pediatric check‑ups. In newborns, a chest X‑ray may reveal a narrowed thoracic cage or rib abnormalities. Early referral to a geneticist can prompt targeted testing before more severe complications arise.
DYNC2H1 mutations are inherited in an autosomal recessive pattern, meaning both parents must carry a copy of the mutated gene. Genetic counseling can determine carrier status and discuss options such as pre‑implantation genetic diagnosis (PGD) or prenatal testing in future pregnancies.===
There is no cure that reverses the genetic defect, but multidisciplinary care can improve quality of life. Respiratory support (e.g., CPAP or mechanical ventilation) may be needed for breathing difficulties. Orthopedic interventions, such as spinal bracing or surgical correction of rib abnormalities, can help maintain chest expansion. Regular monitoring of growth and bone development is essential.
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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