Overview
Angelman syndrome due to a point mutation is a specific genetic form of Angelman syndrome, a neurological condition that affects the nervous system and causes significant developmental challenges. In this form, the disease is caused by a small change (point mutation) in the UBE3A gene on chromosome 15. This gene normally helps the brain develop and function properly, but when it is altered by a mutation, the brain cannot work as expected. People with Angelman syndrome typically show severe intellectual disability, little or no speech, a happy and excitable demeanor with frequent smiling and laughter, balance and movement problems, and seizures. Symptoms usually become noticeable between 6 and 12 months of age when developmental delays appear. Children may have trouble sitting, crawling, or walking, and speech development is severely limited or absent. There is currently no cure for Angelman syndrome. Treatment focuses on managing symptoms such as seizures with anti-epileptic medications, physical therapy to improve movement, speech therapy using alternative communication methods, and behavioral support. Ongoing research into gene therapy and other approaches offers hope for future disease-modifying treatments. The point mutation form of Angelman syndrome is particularly important to identify because it carries a higher recurrence risk in families compared to the more common deletion form.
Key symptoms:
Severe intellectual disabilityLittle or no speechFrequent smiling and laughterEasily excitable personalityBalance and walking difficulties (ataxia)Seizures or epilepsySmall head size (microcephaly)Sleep problemsJerky or stiff movementsHand flappingFascination with waterFeeding difficulties in infancyTongue thrustingWide-based walking gaitHyperactivity and short attention span
Clinical phenotype terms (34)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Infantile
Begins in infancy, roughly 1 month to 2 years old
FDA & Trial Timeline
10 eventsMavriX Bio, LLC — PHASE1, PHASE2
Ultragenyx Pharmaceutical Inc — PHASE2
Assistance Publique - Hôpitaux de Paris
Ultragenyx Pharmaceutical Inc — PHASE3
Ultragenyx Pharmaceutical Inc — PHASE3
Puerta de Hierro University Hospital
IRCCS Eugenio Medea
Ionis Pharmaceuticals, Inc. — PHASE1, PHASE2
Centre Hospitalier Universitaire de Liege
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Angelman syndrome due to a point mutation.
11 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →Specialists
View all specialists →No specialists are currently listed for Angelman syndrome due to a point mutation.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Angelman syndrome due to a point mutation.
Community
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Caregiver Resources
NORD Caregiver Resources
Support, advocacy, and financial assistance for caregivers of rare disease patients.
Mental Health Support
Rare disease caregiving can be isolating. Connect with counseling and peer support.
Family & Caregiver Grants
Financial assistance programs specifically for caregivers of rare disease patients.
Social Security Disability
Learn how rare disease patients may qualify for SSDI/SSI benefits.
Questions for your doctor
Bring these to your next appointment
- Q1.Is my child's specific UBE3A mutation inherited, and what does this mean for future pregnancies?,What is the best seizure management plan, and what medications should be avoided?,What therapies should we start right away to support development?,Are there any clinical trials or emerging treatments my child might be eligible for?,What communication tools or devices would you recommend for my child?,How should we manage sleep problems, and is melatonin appropriate?,What should our long-term care plan look like as my child grows into adulthood?
Common questions about Angelman syndrome due to a point mutation
What is Angelman syndrome due to a point mutation?
Angelman syndrome due to a point mutation is a specific genetic form of Angelman syndrome, a neurological condition that affects the nervous system and causes significant developmental challenges. In this form, the disease is caused by a small change (point mutation) in the UBE3A gene on chromosome 15. This gene normally helps the brain develop and function properly, but when it is altered by a mutation, the brain cannot work as expected. People with Angelman syndrome typically show severe intellectual disability, little or no speech, a happy and excitable demeanor with frequent smiling and l
How is Angelman syndrome due to a point mutation inherited?
Angelman syndrome due to a point mutation follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Angelman syndrome due to a point mutation typically begin?
Typical onset of Angelman syndrome due to a point mutation is infantile. Age of onset can vary across affected individuals.
Are there clinical trials for Angelman syndrome due to a point mutation?
Yes — 11 recruiting clinical trials are currently listed for Angelman syndrome due to a point mutation on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.