Case report: Whole exome sequencing reveals a novel splicing variant of ANKRD17 gene in a Chinese male juvenile with developmental delay and transient tic disorder

Our study reported a novel splicing variant in <i>ANKRD17</i> gene, which may be associated with partial eating, frequent urination, and tic syndrome. This finding expands both the phenotypic and genotypic spectrum of <i>ANKRD17</i> gene. Although there is currently no curative therapy available for <i>ANKRD17</i> gene variants, a definitive diagnosis of its genetic etiology is significant for genetic counseling and family planning purposes. Furthermore, this is the first reported case of the <i>ANKRD17</i> gene in China.