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Welcome to our foundation, dedicated to understanding the TCF20 gene.

Our mission is to provide clear information and support to families facing this rare genetic condition, as well as to support the in-depth study of the TCF20 gene.

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About Us

Welcome to Project TCF20, a 501(c)(3) nonprofit organization dedicated to raising awareness, advancing research, and supporting the global community affected by the TCF20 gene mutation.
 
The TCF20 gene mutation is a rare genetic condition linked to developmental delays, intellectual disabilities, autism spectrum disorders, and other medical challenges. Despite its profound impact on individuals and families, it remains relatively unknown, with limited resources and understanding.
 
At Project TCF20, our mission is to change that. We are committed to:
 
  • Raising Awareness: Increasing understanding of the TCF20 gene mutation among medical professionals, researchers, and the general public to improve diagnosis and support.
  • Advancing Research: Promoting and funding scientific studies aimed at uncovering the role of TCF20, with the ultimate goal of discovering effective treatments and potential cures.
  • Empowering Families: Offering resources, education, and a supportive network for families navigating the challenges associated with TCF20.
 
Through collaboration with researchers, clinicians, and advocates worldwide, we aim to bridge the gap between science and community. Together, we can pave the way toward brighter futures for those impacted by this rare condition.
 
Join us in our mission to transform the understanding and treatment of the TCF20 gene mutation. Your support can make a lasting difference.
 

Project TCF20: Where Hope Meets Action

Symptoms and Diagnosis

Symptoms can vary, with some children experiencing more pronounced symptoms than others. The most common include:

Developmental delay or intellectual disability (>90%)

Autism spectrum disorder (ASD) (~65%)

Attention Deficit Hyperactivity Disorder (ADHD) (~60%)

Poor balance, coordination, and motor skills (~50%)

Skeletal differences (Pectus Excavatum and Flat Feet) (~30%)

Sleep problems (~25%)

For Caregivers

What is TCF20-Associated Disorder?

TCF20-associated disorder is a rare genetic condition that affects brain development and behavior. It is caused by changes in the TCF20 gene, which helps regulate how other genes function during growth.

Common Features Include:

  • Autism spectrum disorder (ASD) and attention disorders (ADHD)
  • Developmental delays and intellectual disabilities
  • Low muscle tone (hypotonia) and seizures
  • Sleep problems, such as trouble falling or staying asleep
  • Facial and skeletal differences in some cases

This condition may occur due to a missing or altered TCF20 gene or, less commonly, a duplication of this region on chromosome 22.

Symptoms and What to Expect

Children with TCF20-associated disorder often face:

  • Learning and developmental delays—speech, motor skills, and physical growth may progress slower.
  • Behavioral challenges—hyperactivity, attention issues, and repetitive behaviors.
  • Physical differences—muscle weakness, unusual facial features, or scoliosis.
  • Medical issues—seizures and sleep disturbances are common.

Not all children will show every symptom, and the severity can vary.

How is It Managed?

Early diagnosis through genetic testing is key to managing this condition. Therapies and regular check-ups can greatly improve outcomes.

Recommended Therapies:

  • Speech therapy for communication delays.
  • Physical and occupational therapy to improve movement and coordination.
  • Behavioral therapy (e.g., Applied Behavior Analysis – ABA) for managing ADHD and autism-related behaviors.
  • Individualized Education Plans (IEPs) for school support.

Medical Monitoring:

  • Seizures: Regular check-ups and, if necessary, neurologist referrals.
  • Growth and feeding issues: Monitoring weight, growth, and nutrition.
  • Scoliosis and bone health: Regular screenings for skeletal problems.
  • Sleep problems: Consultations with sleep specialists if disturbances persist.
Why Does TCF20 Cause These Symptoms?

The TCF20 gene helps control other genes involved in brain growth and behavioral regulation.

  • Too little TCF20 (due to deletions) can disrupt this process, leading to delays and disabilities.
  • Too much TCF20 (due to duplications) may also cause similar symptoms.
Looking Ahead

With early therapies, many children show improvement in their development and quality of life. Research is ongoing to better understand this condition and develop targeted treatments.

Want to Learn More or Participate in Research?
Reach out to TCF20@emory.edu for updates on studies and support resources.

For Professionals and researchers

General Information

TCF20-associated disorders are rare genetic conditions that affect brain development and behavior. They are caused by changes in the TCF20 gene, located on chromosome 22q13.2, resulting from loss-of-function mutations or chromosomal deletions.

Key Features Include:

  • Developmental delay, intellectual disability, ASD, ADHD, hypotonia, and sleep disturbances.
  • Additional symptoms may include seizures, macrocephaly, movement disorders, and behavioral challenges.

Mouse models show that TCF20 acts as a transcription cofactor, regulating gene expression essential for brain development.

Clinical Characteristics

Common Symptoms:

  • Neurodevelopmental delays, including speech impairments and motor issues.
  • Autism-like behaviors and attention deficits.
  • Physical features, such as low muscle tone, skeletal differences, and immune problems.
  • Seizures and sleep abnormalities are also observed.

Chromosomal Deletions:
Deletions in 22q13.2, which include TCF20, can lead to similar symptoms, such as severe speech delays, neonatal hypotonia, and dysmorphic features.

Management and Surveillance

Early Diagnosis and Intervention:

  • Genetic testing and neurological assessments are crucial for identifying TCF20-associated disorders.

Therapies Include:

  • Speech and language therapy, physical therapy, and behavioral interventions (ABA).
  • Individualized Education Plans (IEPs) to support academic development.

Medical Monitoring:

  • Seizure screenings and referrals to neurologists.
  • Growth, feeding, and musculoskeletal evaluations, including scoliosis checks.
  • Sleep evaluations and referrals to specialists for sleep-related issues.

Molecular Characteristics

TCF20 Variants:

  • Typically caused by loss-of-function mutations (often de novo) or chromosomal deletions/duplications in 22q13.2.
  • TCF20 forms part of a chromatin complex with regulators like RAI1, PHF14, and HMG20A, influencing brain development.
  • Studies show its interaction with MeCP2, which controls neuronal gene expression.

Research Collaboration

We are establishing a TCF20 Disorder Center at Emory University School of Medicine to expand research and improve understanding of the disorder.

Current Projects Include:

  • Developing mouse models and human iPSC models to study gene function.
  • Testing therapeutic interventions for TCF20-related conditions.

Contact Us:
For research participation or collaboration, email TCF20@emory.edu.

Meet our People

Jian Zhou, Ph.D.

Assistant Professor of Human Genetics
Emory University School of Medicine.

Hong Li, MD, PhD

Associate Professor
Department of Human Genetics and Pediatrics
Program Director, Medical Biochemical Genetics Fellowship Program
Emory University, School of Medicine

Michael Gambello, MD, PhD

 Professor and Vice Chair of the Human Genetics Department at Emory. He is also the Section Chief of the Division of Medical Genetics and a leading expert on rare neurogenetic disorders.

Livia Peng

Dedicated student working on a clinical project focused on TCF20 genotype-phenotype correlation. 

Dr. Shigeki Iwase

Associate Professor at the University of Michigan Medical School and a leading expert in Rai1 biology and Smith–Magenis syndrome.

David Simon

Associate Professor of Law
Northeastern University School of Law.

Carolina Lapostol

 Registered Nurse. 
 Evidence Based Medicine and Research Diploma
 Clinical Trial Manager / Coordinator

Resources

 

References

Babbs C et al. De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder. J Med Genet. 2014;51(11):737-47. PMID: 25228304

Lévy J et al. Rare and de novo duplications containing TCF20 are associated with a neurodevelopmental disorder. Clin Genet. 2022 Mar;101(3):364-370. PMID: 34904221

Schafgen J et al. De novo nonsense and frameshift variants of TCF20 in individuals with intellectual disability and postnatal overgrowth. Eur J Hum Genet. 2016 Dec;24(12):1739-1745. PMID: 27436265

Torti E et al. Variants in TCF20 in neurodevelopmental disability: description of 27 new patients and review of literature. Genet Med. 2019 Sep;21(9):2036-2042. PMID: 30739909

Upadia J et al. A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C. Am J Med Genet. 2018;176A:2791–2797. PMID: 30216695

Vetrini F et al. De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome. Genome Med. 2019 Feb 28;11(1):12. PMID: 30819258

Zhou J et al. Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders. Proc Natl Acad Sci U S A. 2022 Jan 25;119(4):e2119078119. PMID: 35074918

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  • hello@projecttcf20.com

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