Suicidal and self‐injurious behavior following adalimumab reference‐to‐generic biosimilar switch

Abstract

define a new subgroup of schizophrenia, often associated with obsessivecompulsive disorder. 1 Here, we described a proband with a de novo variant in SETD1A [NM_014712.3:exon8: c.2120_2121insA (p.Gly708Argfs*117)] identified by whole-exome sequencing. The main manifestations of the proband were moderate global developmental delay, epilepsy, hypotonia, short stature, special facial features, hemangioma, toe deformity, white matter dysplasia, and ventricular dilation. Several studies have shown that individuals with SETD1A variants may have unique characteristics, including epilepsy, general developmental delay, and minor facial deformities (Table 1). [2][3][4] Compared with previous reports, our case showed novel phenotypes such as macrocephaly, hypertrichosis, stubby fingers, and unique face and toe deformities, namely, the facial features, trunk, and limbs on the left side were relatively smaller than that on the right. In addition, our patient had no obvious speech development disorder or behavioral abnormality. Levetiracetam is effective in the treatment of seizures in our case. In addition, there was another report that showed phenobarbital to improve SETD1A-related epilepsy. 4 This case enriches our understanding of SETD1A-related neurodevelopmental disorders, expanding the phenotype and genotype spectrum. Through literature review, we also found that the truncating variants were more severe in clinical phenotypes, most of which were accompanied by mental and behavioral disorders, facial deformities, and short stature. This case provides valuable information for clinical diagnosis and genetic counseling.