Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Review

CTNNB1 Neurodevelopmental Disorder

Stephanie KL Ho  1 , Mandy HY Tsang  2 , Mianne Lee  2 , Shirley SW Cheng  1 , Ho-ming Luk  3 , Ivan FM Lo  1 , Brian HY Chung  4
Margaret P Adam, Jerry Feldman, Ghayda M Mirzaa, Roberta A Pagon, Stephanie E Wallace, Anne Amemiya
, editors.
In: GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993.
.
Affiliations
Free Books & Documents
Review

CTNNB1 Neurodevelopmental Disorder

Stephanie KL Ho et al.
Free Books & Documents

Excerpt

Clinical characteristics: CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR). Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis.

Diagnosis/testing: The diagnosis of CTNNB1-NDD is established in a proband with suggestive findings and a heterozygous pathogenic variant in CTNNB1 identified by molecular genetic testing

Management: Treatment of manifestations: There is no curative treatment. Supportive care by a multidisciplinary team often includes a neurologist, speech-language pathologist, physiatrist, occupational therapist, physical therapist, feeding team, pediatric ophthalmologist, audiologist, and developmental pediatrician.

Surveillance: Monitor neurologic findings for response to supportive interventions and emergence of new findings or concerns regarding developmental/educational progress, behavior issues, ophthalmologic findings and vision, and family support.

Genetic counseling: CTNNB1-NDD is an autosomal dominant disorder typically caused by a de novo pathogenic variant. Rarely, individuals diagnosed with CTNNB1-NDD inherited a CTNNB1 pathogenic variant from a parent. Once the CTNNB1 pathogenic variant has been identified in an affected family member, prenatal and preimplantation genetic testing are possible.

PubMed Disclaimer

Similar articles

  • DDX3X-Related Neurodevelopmental Disorder.
    Johnson-Kerner B, Snijders Blok L, Suit L, Thomas J, Kleefstra T, Sherr EH. Johnson-Kerner B, et al. 2020 Aug 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2020 Aug 27. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 32852922 Free Books & Documents. Review.
  • CLPB Deficiency.
    Wortmann SB, Wevers RA. Wortmann SB, et al. 2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2016 Nov 22 [updated 2022 Mar 10]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 27891836 Free Books & Documents. Review.
  • Phelan-McDermid Syndrome-SHANK3 Related.
    Phelan K, Rogers RC, Boccuto L. Phelan K, et al. 2005 May 11 [updated 2024 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2005 May 11 [updated 2024 Jun 6]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301377 Free Books & Documents. Review.
  • DYNC1H1-Related Disorders.
    Möller B, Coppola A, Jungbluth H, Dafsari HS. Möller B, et al. 2024 Mar 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2024 Mar 21. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 38513047 Free Books & Documents. Review.
  • ATP1A3-Related Disorder.
    Brashear A, Sweadner KJ, Haq I, Napoli E, Ozelius L. Brashear A, et al. 2008 Feb 7 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2008 Feb 7 [updated 2024 Dec 5]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301294 Free Books & Documents. Review.
See all similar articles

References

    1. Coussa RG, Zhao Y, DeBenedictis MJ, Babiuch A, Sears J, Traboulsi EI. Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. Ophthalmic Genet. 2020;41:63–8. - PubMed
    1. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012;367:1921–9. - PubMed
    1. Dixon MW, Stem MS, Schuette JL, Keegan CE, Besirli CG. CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. Ophthalmic Genet. 2016;37:468–70. - PubMed
    1. Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D, Edery P. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am J Med Genet A. 2014;164A:1571–5. - PubMed
    1. Ho S, Tsang MH, Fung JL, Huang H, Chow CB, Cheng SS, Luk HM, Chung BH, Lo IF. CTNNB1-related neurodevelopmental disorder in a Chinese population: a case series. Am J Med Genet A. 2022;188:130–7. - PubMed

LinkOut - more resources