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Response to Cueto-González et al

2021; Elsevier BV; Volume: 24; Issue: 3 Linguagem: Inglês

10.1016/j.gim.2021.11.006

1530-0366

Paolo Zanoni, Katharina Steindl, Anita Rauch,

RNA modifications and cancer

We read with interest the contribution of Cueto-González et al (Cueto-González AM, Fernández-Álvarez P, Valenzuela Palafoll I, Lasa-Aranzasti A, Vendrell-Bayona T, Tizzano E. Genetics in medicine. Genet Med. 2021) who described an additional patient with NSD2 deficiency caused by the de novo p.D455Efs∗19 truncating variant. The phenotype of the affected individual, characterized by stature below the familial target-height, occipitofrontal circumference in the lower-normal range, and mild to moderate intellectual disability without epilepsy, is in line with that of the patients described in our series.