PPP2R5D-related intellectual disability and neurodevelopmental delay – the first case in the Czech Republic
Authors:
K. Slabá 1; H. Pálová 2; P. Veselá 2; Š. Aulická 2,3; P. Konečná 1; M. Štěrba 1; P. Jabandžiev 1,2; O. Slabý 2,4; D. Procházková 1,5
Authors place of work:
Pediatrická klinika, LF MU a FN Brno
1; CEITEC, MU, Brno
2; Klinika dětské neurologie, LF MU a FN Brno
3; Biologický ústav, LF MU, Brno
4; Ústav lékařské genetiky a genomiky, LF MU a FN Brno
5
Published in the journal:
Cesk Slov Neurol N 2021; 84/117(2): 205-207
Category:
Letter to Editor
doi:
https://doi.org/10.48095/cccsnn2021205
Zdroje
1. Biswas D, Cary W, Nolta JA. PPP2R5D-related intellectual disability and neurodevelopmental delay: a review of the current understanding of the genetics and biochemical basis of the disorder. Int J Mol Sci 2020; 21(4): 1286. doi: 10.3390/ ijms21041286.
2. Jordan’s Guardian Angels. [online]. Available from URL: https:/ / jordansguardianangels.org/ the-history-of-jordans-syndrome/ .
3. Reynhout S, Jansen S, Haesen D et al. De novo mutations affecting the catalytic Ca subunit of PP2A, PPP2CA, cause syndromic intellectual disability resembling other PP2A-related neurodevelopmental disorders. Am J Hum Genet 2019; 104(1): 139–156. doi: 10.1016/ j.ajhg.2018.12.002.
4. Houge G, Haesen D, Vissers LE et al. B56d-related protein phosphatase 2A dysfunction identified in patients with intellectual disability. J Clin Invest 2015; 125(8): 3051–3062. doi: 10.1172/ JCI79860.
5. Loveday C, Tatton-Brown K, Clarke M et al. Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth. HumMol Genet 2015; 24(17): 4775–4779. doi: 10.1093/ hmg/ ddv182.
6. Janssens V, Goris J. Protein phosphatase 2A: a highly regulated family of serine/ threonine phosphatases implicated in cell growth and signalling. Biochem J2001; 353(Pt 3): 417–439. doi: 10.1042/ 0264-6021:3530417.
7. Shang L, Henderson LB, Cho MT et al. De novo missense variants in PPP2R5D are associated with intellectual disability, macrocephaly, hypotonia, and autism. Neurogenetics 2016; 17(1): 43–49. doi: 10.1007/ s10048-015-0466-9.
8. Fitzgerald TW, Gerety SS, Jones WD et al. Deciphering Developmental Disorders Study. Large-scale discovery of novel genetic causes of developmental disorders. Nature 2015; 519(7542): 223–228. doi: 10.1038/ nature 14135.
9. Hladíková A, Grečmalová D, Černá D et al. Nové možnosti diagnostiky příčin mentální retardace u dětí. Pediatr praxi 2011; 12(6): 380–384.
10. Ilyas M, Mir A, Efthymiou S et al. The genetics of intellectual disability: advancing technology and gene editing. F1000Res 2020; 9: 22. doi: 10.12688/ f1000research.16315.1.
Štítky
Paediatric neurology Neurosurgery NeurologyČlánok vyšiel v časopise
Czech and Slovak Neurology and Neurosurgery
2021 Číslo 2
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