All patients with TSEN54 mutations, which cause pontocerebellar hypoplasia type 2A (PCH2A), an autosomal recessive disorder, shared the same variant NM_207346.3: c.919G > T: p.(Ala307Ser) in homozygous state inherited from carrier parents. Here, TSEN54 is linked to pontocerebellar hypoplasia type 2A.