ES revealed a pathogenic homozygous missense variant in TSEN54 (c.919G > A, p.(Ala307Ser)) in individual L7270 which is the most common variant causing autosomal recessive pontocerebellar hypoplasia type 2a (PCH2A; OMIM #277470). Here, TSEN54 is linked to pontocerebellar hypoplasia type 2A.