Синдром CTNNB1 (CTNNB1-NDD) у ребенка с детским церебральным параличом: описание клинического случая

В статье представлены данные литературы и случай диагностики синдрома CTNNB1 (CTNNB1-NDD) у ребенка с церебральным параличом. Это состояние относится к редким заболеваниям, мало изучено и представляет интерес в связи с трудностью диагностики, относительно сложным описанием фенотипа и клиническим полиморфизмом проявлений. Верификация диагноза важна для определения прогноза у ребенка с церебральным параличом и нарушением зрения, а также для репродуктивного планирования в семье.

1. Притыко А.Г., Чебаненко Н.В., Соколов П.Л. и др. Врожденный спастический церебральный паралич: генетические аспекты патогенеза. Acta Biomed Sci 2019;4(3):28–39. DOI: 10.29413/ABS.2019-4.3.4

2. Coussa R.G., Zhao Y., DeBenedictis M.J. et al. Novel mutation in CTNNB1 causes familial exudative vitreoretinopathy (FEVR) and microcephaly: case report and review of the literature. Ophthalmic Genet 2020;41:63–8.

3. De Ligt J., Willemsen M.H., van Bon B.W. et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med 2012;367:1921–9.

4. Dixon M.W., Stem M.S., Schuette J.L. et al. CTNNB1 mutation associated with familial exudative vitreoretinopathy (FEVR) phenotype. Ophthalmic Genet 2016;37:468–70.

5. Dubruc E., Putoux A., Labalme A. et al. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am J Med Genet A 2014;164A:1571–5.

6. Ho S., Tsang M.H., Fung J.L. et al. CTNNB1-related neurodevelopmental disorder in a Chinese population: a case series. Am J Med Genet A 2022;188:130–7.

7. Jin S.C., Lewis S.A., Bakhtiari S. et al. Mutations disrupting neuritogenesis genes confer risk for cerebral palsy. Nat Genet 2020;52:1046–56.

8. Karolak J.A., Szafranski P., Kilner D. et al. Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity. Clin Genet 2019;96:366–70.

9. Ke Z., Chen Y. Case report: a de novo CTNNB1 nonsense mutation associated with neurodevelopmental disorder, retinal detachment, polydactyly. Front Pediatr 2020;8:575673.

10. Kharbanda M., Pilz D.T., Tomkins S. et al. Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. Eur J Med Genet 2017;60:130–5.

11. Kuechler A., Willemsen M.H., Albrecht B. et al. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Hum Genet 2015;134:97–109.

12. Li N., Xu Y., Li G. et al. Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: case report and literature review. Medicine (Baltimore) 2017;96:e6914.

13. López-Rivera J.A., Perez-Palma E., Symonds J. et al. A catalogue of new incidence estimates of monogenic neurodevelopmental disorders caused by de novo variants. Brain 2020;143:1099–105.

14. Nikopoulos K., Venselaar H., Collin R.W.J. et al. Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP. Hum Mutat 2010;31:656–66.

15. Panagiotou E.S., Sanjurjo S.C., Poulter J.A. et al. Defects in the cell signaling mediator beta-catenin cause the retinal vascular condition FEVR. Am J Hum Genet 2017;100:960–8.

16. Pipo-Deveza J., Fehlings D., Chitayat D. et al. Rationale for doparesponsive CTNNB1/ss-catenin deficient dystonia. Mov Disord 2018;33:656–7.

17. Rossetti L.Z., Bekheirnia M.R., Lewis A.M. et al. Missense variants in CTNNB1 can be associated with vitreoretinopathy-seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype. Mol Genet Genomic Med 2021;9:e1542.

18. Sun W., Xiao X., Li S. et al. Germline mutations in CTNNB1 associated with syndromic FEVR or Norrie disease. Invest Ophthalmol Vis Sci 2019;60:93–7.

19. Tucci V., Kleefstra T., Hardy A. et al. Dominant beta-catenin mutations cause intellectual disability with recognizable syndromic features. J Clin Invest 2014;124:1468–82.

20. Wang H., Zhao Y., Yang L. et al. Identification of a novel splice mutation in CTNNB1 gene in a Chinese family with both severe intellectual disability and serious visual defects. Neurol Sci 2019;40:1701–4.

21. Winczewska-Wiktor A., Badura-Stronka M., Monies-Nowicka A. et al. A de novo CTNNB1 nonsense mutation associated with syndromic atypical hyperekplexia, microcephaly and intellectual disability: a case report. BMC Neurol 2016;16:35.

22. Zhan T., Rindtorff N., Boutros M. Wnt signaling in cancer. Oncogene 2017;36:1461–73.