PPP2R2B and cerebellar ataxia: This region contains the PPP2R2B gene (OMIM: 604325), the heterozygous mutation of which leads to Spinocerebellar ataxia 12, which is clinically manifested as upper limb tremor, gait ataxia, and so on.[19] In case 2, no genes are involved in the region of 0.54Mb duplication at 14q32.33, and the clinical significance of this region is still unclear.