Is Juvenile Hyaline Fibromatosis hereditary?

Juvenile Hyaline Fibromatosis is a hereditary condition, meaning it is caused by genetic changes passed down within families. Specifically, it follows an autosomal recessive inheritance pattern, which requires an individual to inherit two copies of a mutated gene—one from each parent—to manifest the disease.

Is Juvenile Hyaline Fibromatosis hereditary?

Yes, Juvenile Hyaline Fibromatosis is strictly a genetic, hereditary disorder. It is caused by mutations in the CMG2 (also known as ANTXR2) gene, which provides instructions for making a protein essential for the proper maintenance of connective tissue. Because it is autosomal recessive, de novo or spontaneous mutations are extremely rare in Juvenile Hyaline Fibromatosis; almost all affected individuals have two carrier parents who are typically asymptomatic.

What are the risks for families?

When both parents are carriers of a CMG2 mutation, the risk for each pregnancy is as follows:

• 25% chance the child will inherit two mutations and develop Juvenile Hyaline Fibromatosis.


• 50% chance the child will be a healthy carrier (inheriting one mutation).


• 25% chance the child will inherit neither mutation.

How is genetic testing utilized?

Genetic testing for Juvenile Hyaline Fibromatosis involves molecular analysis of the CMG2 gene to identify pathogenic variants. Testing is highly recommended for families who have a child diagnosed with this condition. For those planning a family, carrier testing can identify if both partners carry a mutation, allowing for informed reproductive choices, including prenatal diagnosis or preimplantation genetic testing (PGT).

The role of genetic counseling

Genetic counseling is a vital step for any family affected by Juvenile Hyaline Fibromatosis. A genetic counselor can help interpret test results, calculate recurrence risks, and provide emotional support as you navigate the complexities of this rare condition. At DiseaseMaps.org, we have seen 7 people with Juvenile Hyaline Fibromatosis join our community, underscoring the importance of connecting with others who understand the unique genetic and clinical challenges of this diagnosis.

Next steps

• Schedule a consultation with a board-certified clinical geneticist to discuss CMG2 testing.


• Connect with the 7 members in the DiseaseMaps.org community to share experiences and coping strategies.


• Consult a genetic counselor to review family history and reproductive options.

Medical disclaimer: This information is for educational purposes only and should not replace professional medical advice, diagnosis, or treatment.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Juvenile Hyaline Fibromatosis


• Orphanet: Hyaline fibromatosis syndrome


• OMIM (Online Mendelian Inheritance in Man): ANTXR2 Gene