Detection of pathogenic novel intronic splicing variants in the KIDINS220 gene causes motor developmental delay.

From the abstract

Pathogenic variants in the KIDINS220 gene can cause SINO syndrome (OMIM #617296), VENARG syndrome (OMIM #619501), or other neurological and metabolic disorders such as obesity and nystagmus. We identified two novel intronic variants in intron 29 of KIDINS220 gene (NM_020738.4), c.4054-2A > G and c.4054-7T > C, in a female patient presenting with motor dysfunction and…