Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cyclic Neutropenia is an inherited disorder caused by mutations in the ELANE gene, which follows an autosomal dominant inheritance pattern. This means that a person with Cyclic Neutropenia only needs to inherit one copy of the mutated gene from an affected parent to develop the condition, resulting in a 50% risk of transmission to each child. Is Cyclic Neutropenia hereditary? Yes, Cyclic Neutropenia is hereditary, meaning it is caused by a genetic mutation passed through families.
Is Cyclic Neutropenia hereditary?
Is Cyclic Neutropenia hereditary? The genetic component explained in plain language, reviewed against medical sources, with patient experiences.
Cyclic Neutropenia is an inherited disorder caused by mutations in the ELANE gene, which follows an autosomal dominant inheritance pattern. This means that a person with Cyclic Neutropenia only needs to inherit one copy of the mutated gene from an affected parent to develop the condition, resulting in a 50% risk of transmission to each child.
Is Cyclic Neutropenia hereditary?
Yes, Cyclic Neutropenia is hereditary, meaning it is caused by a genetic mutation passed through families. It is classified as a genetic disorder because it results from a specific change in the DNA sequence of the ELANE gene, which provides instructions for making the protein neutrophil elastase. While it is hereditary, some cases of Cyclic Neutropenia occur due to a de novo (spontaneous) mutation in the affected individual, meaning there is no previous family history of the disease.
How is the genetics of Cyclic Neutropenia inherited?
The inheritance of Cyclic Neutropenia is autosomal dominant. Understanding the risks for families involves several key factors:
- Autosomal Dominant Pattern: An affected parent has a 50% chance of passing the ELANE mutation to each child.
- De Novo Mutations: Spontaneous mutations occurring in the egg or sperm at conception are a documented cause, meaning parents without the condition can have a child with Cyclic Neutropenia.
- Variable Expressivity: Even within the same family, individuals with the same mutation may experience different degrees of symptom severity.
When is genetic testing and counseling recommended?
Genetic testing for Cyclic Neutropenia is recommended to confirm a clinical diagnosis and to provide clarity for family planning. A clinical geneticist or genetic counselor can help interpret test results and discuss reproductive options, such as preimplantation genetic testing (PGT) or prenatal diagnosis. For the 25 members of the DiseaseMaps.org community living with Cyclic Neutropenia, genetic counseling serves as a vital resource for understanding recurrence risks and navigating the complexities of hereditary health.
Next steps
- Consult with a clinical geneticist to discuss ELANE gene testing.
- Speak with a genetic counselor regarding family planning and prenatal testing options.
- Connect with the 25 members of the DiseaseMaps.org community to share experiences and coping strategies.
- Maintain regular monitoring with a hematologist or immunologist to manage neutrophil counts.
Medical disclaimer: This information is for educational purposes and should not replace professional medical advice, diagnosis, or treatment; always consult with your healthcare provider regarding your specific medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Cyclic Neutropenia.
- Orphanet: Neutropenia, cyclic (ORPHA:650).
- OMIM (Online Mendelian Inheritance in Man): Neutropenia, Cyclic (#162800).
- Severe Chronic Neutropenia International Registry (SCNIR).
