A homozygous acceptor splice site mutation, that is, c.399‐2A > G, was found in the GTPBP2 gene in the proband case. Direct sequencing of the region harboring the c.399‐2A > G variant in all family members revealed complete segregation with the disease in this family. The detected variant is predicted to disrupt the highly conserved acceptor splice site of exon 4.
GTPBP2