A clinical exome study on a family segregating pontocerebellar hyploplasia

Pontocerebellar hypoplasia type 2D (PCH2D) is caused by mutations in the SEPSECS gene (chr. 4p15.2), encoding O-Phosphoseryl-tRNA:selenocysteinyl-tRNA synthase. This is a key enzyme in the biosynthesis of selenoproteins, which act in maintaining antioxidant systems. . We describe a novel patient with compound heterozygosity in the SEPSECS gene including a novel missense variant.  This study broadens the genetic background and associated PCH2D phenotype, supporting the causal link with mitochondrial disorders in selenoproteins biosynthesis deficiency

22M1764  vcf files are related to the proband

22M1764M vcf  files are related to his mother

22M1764P files are related to his father

The proband suffers with pontocerebellar hyplosia while his parents are healthy