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GENE GUIDE

ANK2-Related Syndrome

This guide is not meant to take the place of medical advice. Please consult with your doctor about your genetic results and health care choices. This Gene Guide was last updated in 2026. As new information comes to light with new research we will update this page. You may find it helpful to share this guide with friends and family members or doctors and teachers of the person who has ANK2-Related Syndrome.
a doctor sees a patient

ANK2-related syndrome is also called ankyrin-B syndrome. For this webpage, we will be using the name ANK2-related syndrome to encompass the wide range of variants observed in the people identified. Variants in the ANK2 gene can also cause cardiac arrhythmia, ankyrin-B-related or long QT syndrome 4, which are both heart-related conditions. This webpage includes information on the neurodevelopmental condition.

ANK2-related syndrome happens when there are changes in the ANK2 gene. These changes can keep the gene from working as it should.

Key Role

ANK2 plays an important role in brain development and is associated with autism. The gene is also likely associated with language and learning.

Symptoms

Because the ANK2 gene is important for brain activity, many people who have ANK2-related syndrome have:

  • Developmental delay
  • Intellectual disability
  • Speech impairment
  • Behavioral issues, including autism
  • Cardiac issues
  • Seizures

ANK2-related syndrome is a genetic condition, which means that it is caused by variants in genes. Our genes contain the instructions, or code, that tell our cells how to grow, develop, and work. Every child gets two copies of the ANK2 gene: one copy from their mother’s egg, and one copy from their father’s sperm. In most cases, parents pass on exact copies of the gene to their child. But the process of creating the egg or sperm is not perfect. A change in the genetic code can lead to physical issues, developmental issues, or both. 

Sometimes a spontaneous variant happens in the sperm, egg or after fertilization. When a brand new genetic variant happens in the genetic code is called a ‘de novo’ genetic variant. The child is usually the first in the family to have the genetic variant.

De novo variants can take place in any gene. We all have some de novo variants, most of which don’t affect our health. But because ANK2 plays a key role in development, de novo variants in this gene can have a meaningful effect. 

Research shows that ANK2-related syndrome is often the result of a de novo variant in ANK2. Many parents who have had their genes tested do not have the ANK2 genetic variant found in their child who has the syndrome. In some cases, ANK2-related syndrome happens because the genetic variant was passed down from a parent.

Autosomal dominant conditions

ANK2-related syndrome is an autosomal dominant genetic condition. This means that when a person has the one damaging variant in ANK2 they will likely have symptoms of ANK2-related syndrome. For someone with an autosomal dominant genetic syndrome, every time they have a child there is a 50 percent chance they pass on the same genetic variant and a 50 percent chance they do not pass on the same genetic variant.

Autosomal Dominant Genetic Syndrome

GENE / gene
GENE / gene
Genetic variant that happens in sperm or egg, or after fertilization
GENE / gene
Child with de novo genetic variant
gene / gene
Non-carrier child
gene / gene
Non-carrier child

Why does my child have a change in the ANK2 gene?

No parent causes their child’s ANK2-related syndrome. We know this because no parent has any control over the gene changes that they do or do not pass on to their children. Please keep in mind that nothing a parent does before or during the pregnancy causes this to happen. The gene change takes place on its own and cannot be predicted or stopped.

Each family is different. A geneticist or genetic counselor can give you advice on the chance that this will happen again in your family.

The risk of having another child who has ANK2-related syndrome depends on the genes of both biological parents. 

  • If neither biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is on average 1 percent. This 1 percent chance is higher than the chance of the general population. The increase in risk is due to the very unlikely chance that more of the mother’s egg cells or the father’s sperm cells carry the same genetic variant. 
  • If one biological parent has the same genetic variant found in their child, the chance of having another child who has the syndrome is 50 percent. 

For a symptom-free brother or sister of someone who has ANK2-related syndrome, the sibling’s risk of having a child who has ANK2-related syndrome depends on the sibling’s genes and their parents’ genes. 

  • If neither parent has the same genetic variant causing ANK2-related syndrome, the symptom-free sibling has a nearly 0 percent chance of having a child who would inherit ANK2-related syndrome. 
  • If one biological parent has the same genetic variant causing ANK2-related syndrome, the symptom-free sibling has a 50 percent chance of also having the same genetic variant. If the symptom-free sibling has the same genetic variant, their chance of having a child who has the genetic variant is 50 percent. 

For a person who has ANK2-related syndrome, the risk of having a child who has the syndrome is about 50 percent.

As of 2026, about 16 people with ANK2-related syndrome have been described in medical research.

It is unknown if people with ANK2-related syndrome look different.

Scientists and doctors have only just begun to study ANK2-related syndrome. At this point, there are no medicines designed to treat the syndrome. A genetic diagnosis can help people decide on the best way to track the condition and manage therapies. Doctors can refer people to specialists for:

    • Physical exams and brain studies
    • Genetics consults
    • Development and behavior studies
    • Other issues, as needed

A developmental pediatrician, neurologist, or psychologist can follow progress over time and can help:

    • Suggest the right therapies. This can include physical, occupational, speech, or behavioral therapy.
    • Guide individualized education plans (IEPs).

Specialists advise that therapies for ANK2-related syndrome should begin as early as possible, ideally before a child begins school.

If seizures happen, consult a neurologist. There are many types of seizures, and not all types are easy to spot. To learn more, you can refer to resources such as the Epilepsy Foundation’s website: www.epilepsy.com/learn/types-seizures.

This section includes a summary of information from major published articles. It highlights how many people have different symptoms. To learn more about the articles, see the Sources and References section of this guide.

Learning and speech

People with ANK2-related syndrome had developmental delay or intellectual disability, and speech and language impairment.

  • 5 out of 11 people had developmental delay or intellectual disability (46 percent)
  • 12 out of 12 people had language and communication impairment (100 percent)
46%
5 out of 11 people had developmental delay or intellectual disability
100%
12 out of 12 people had language and communication impairment

Behavior

Some people with ANK2-related syndrome had behavioral issues, such as autism, attention-deficit/hyperactivity disorder (ADHD), aggression, anxiety, agitation, and mood disorders.

  • 10 out of 14 people had autism (71 percent)
  • 5 out of 10 people had ADHD (50 percent)
  • 6 out of 11 people had anxiety, agitation, and mood disorders (55 percent)
71%
10 out of 14 people had autism
50%
5 out of 10 people had ADHD
55%
6 out of 11 people had anxiety, agitation, and mood disorders

Brain

Many people with ANK2-related syndrome had neurological medical issues, seizures, and an abnormal electroencephalogram (EEG).

  • 12 out of 16 people had seizures (75 percent)
  • 9 out of 10 people had an abnormal EEG (90 percent)
Human head showing brain outline

Heart

1 in 13 people with ANK2-related syndrome had an abnormal electrocardiogram (ECG) or cardiac damage.

  • 1 out of 13 people had an abnormal ECG or cardiac damage (8 percent)

Graphs

1 out of 13 people had an abnormal ECG or cardiac damage

Where can I find support and resources?

Simons Searchlight

Simons Searchlight is an online international research program, building an ever growing natural history database, biorepository, and resource network of over 175 rare genetic neurodevelopmental disorders. By joining their community and sharing your experiences, you contribute to a growing database used by scientists worldwide to advance the understanding of your genetic condition. Through online surveys and optional blood sample collection, they gather valuable information to improve lives and drive scientific progress. Families like yours are the key to making meaningful progress. To register for Simons Searchlight, go to the Simons Searchlight website at www.simonssearchlight.org and click “Join Us.”

Sources and References

  • Garotti, R., Marino, M., Riccio, M. P., Cappuccio, G., Maffettone, V., & Bravaccio, C. (2025). Variability in autism spectrum phenotypes linked to heterozygous missense familial ANK2 mutation. European Journal of Medical Genetics, 74, 105001. doi:10.1016/j.ejmg.2025.105001
  • Lin, P. H., Ho, C. J., Lin, C. H., Hou, Y. Y., Chan, C. H., & Tsai, M. H. (2025). Self-limited familial focal epilepsy caused by ANK2 variants: A potentially under-recognized condition. Epilepsia Open, 10(2), 635-642. doi:10.1002/epi4.70003
  • Zhao, L., Qiao, Z. D., Jia, Y. X., Fu, J. X., Li, T. X., Jia, K. R., Zhao, H., Bao, J. P., Yang, X. F., … & Yang, G. L. (2025). A mutation in the ANK2 gene causing ASD and a review of the literature. Molecular Genetics & Genomic Medicine, 13(3), e70083. doi:10.1002/mgg3.70083

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