Overview
SIN3-related intellectual disability syndrome due to a point mutation (also sometimes called SIN3A syndrome or Witteveen-Kolk syndrome when caused by deletions, though the point mutation form is a closely related but distinct condition) is a rare genetic disorder caused by a change in the SIN3A gene. This gene plays an important role in controlling how other genes are switched on and off in the body, especially in the developing brain. When the SIN3A gene has a point mutation — meaning a single 'letter' in the DNA code is changed — it does not work properly, and this affects brain development and function. The most noticeable effect of this condition is intellectual disability, which can range from mild to moderate. Many people with this syndrome also have delayed speech and language development, behavioral challenges, and features that affect their physical appearance. Some individuals may have autism spectrum disorder or attention difficulties. The condition is present from birth, though it is often recognized during early childhood when developmental delays become more apparent. There is currently no cure for SIN3-related intellectual disability syndrome. Treatment focuses on supporting development and managing symptoms. This includes speech therapy, occupational therapy, physical therapy, special education programs, and behavioral support. With the right support, many individuals can make meaningful progress and improve their quality of life.
Key symptoms:
Intellectual disability (difficulty with learning and thinking)Delayed speech and language developmentDelayed walking or other motor milestonesBehavioral challenges, including hyperactivity or attention difficultiesFeatures of autism spectrum disorder, such as difficulty with social interactionMild differences in facial appearance (such as widely spaced eyes or a broad forehead)Short statureFeeding difficulties in infancyAnxiety or emotional regulation difficultiesRepetitive behaviors
Clinical phenotype terms (20)— 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
Treatments
No FDA-approved treatments are currently listed for SIN3-related intellectual disability syndrome due to a point mutation.
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Specialists
View all specialists →No specialists are currently listed for SIN3-related intellectual disability 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 SIN3-related intellectual disability 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.What therapies should my child start right away, and how often should they happen?,Should other family members be tested for this gene change?,What signs should I watch for that might mean my child's condition is changing or getting worse?,Are there any clinical trials or research studies we could participate in?,How can I get an individualized education plan (IEP) set up for my child at school?,What specialists should be part of my child's care team, and how often should we see them?,Are there any support groups or patient organizations for families affected by SIN3A-related conditions?
Common questions about SIN3-related intellectual disability syndrome due to a point mutation
What is SIN3-related intellectual disability syndrome due to a point mutation?
SIN3-related intellectual disability syndrome due to a point mutation (also sometimes called SIN3A syndrome or Witteveen-Kolk syndrome when caused by deletions, though the point mutation form is a closely related but distinct condition) is a rare genetic disorder caused by a change in the SIN3A gene. This gene plays an important role in controlling how other genes are switched on and off in the body, especially in the developing brain. When the SIN3A gene has a point mutation — meaning a single 'letter' in the DNA code is changed — it does not work properly, and this affects brain development
How is SIN3-related intellectual disability syndrome due to a point mutation inherited?
SIN3-related intellectual disability 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 SIN3-related intellectual disability syndrome due to a point mutation typically begin?
Typical onset of SIN3-related intellectual disability syndrome due to a point mutation is infantile. Age of onset can vary across affected individuals.