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Kleefstra. J Transl Genet Genom 2020;4:464-6 I http://dx.doi.org/10.20517/jtgg.2020.53 Page 465

Tools that further define clinical and molecular phenotypes and may assist in molecular confirmation
are shown by the use of facial recognition in “DeepGestalt analysis of the SETD5-associated intellectual
[10]
disability syndrome” and by the application of DNA episigns in the study on several molecular variants
causing Kleefstra syndrome in “EHMT1 pathogenic variants and 9q34.3 microdeletions share altered DNA
[11]
methylation patterns in patients with Kleefstra syndrome” .

The involvement of molecular and biological pathways involved in NDDs are reflected nicely by two
different reviews: “Role of transfer RNA modification and aminoacylation in the etiology of congenital
intellectual disability” and “Chromodomain helicase DNA-binding proteins and neurodevelopmental
disorders” [12,13] . The NDDs field increasingly benefits from the use of cellular and animal models, as
reflected by the studies on “Human induced pluripotent cells in personalized treatment of monogenic
[15]
epilepsies” and “Animal models of autism: a perspective from autophagy mechanisms” . Finally,
[14]
the manuscript “The influence of CYP enzymes and ABCB1 on treatment outcomes in schizophrenia:
association of CYP1A2 activity with adverse effects” highlights the importance of pharmacogenomics on
[16]
treatment of developmental or psychiatric conditions .

Altogether, the studies presented in this special issue highlight the fascinating and rapidly moving field on
understanding and treating Mendelian NDDs. Unique strategies are developed for optimal personalized
medicine targeted to this vulnerable population.

DECLARATIONS
Authors’ contributions
The author contributed solely to the article.

Availability of data and materials
Not applicable.

Financial support and sponsorship
Funding was provided by the Netherlands Organization for Health Research and Development (ZonMw
grant 91718310 and research council (Aspasia 015.014.036).

Conflicts of interest
The author declared that there are no conflicts of interest.

Ethical approval and consent to participate
Not applicable.

Consent for publication
Not applicable.

Copyright
© The Author(s) 2020.

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2. Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature
2017;542:433-8.
3. Gilissen C, Hehir-Kwa JY, Thung DT, et al. Genome sequencing identifies major causes of severe intellectual disability. Nature
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