Genetic result
WES led to the identification of a variant in the MOSC2 gene -
c.472_477del (Table 2, Suppl. 1). The results of the predicted effect
of mutations at position 158 and 159 of the catalytic subunit of
molybdopterin synthase complex obtained by PredictSNP server (Brendl,
2014).
Table 2. Genetic result of our patient. Nomenclature of the variant
following the guidelines of the Human Genome Variation Society using
NM_004531.4 as a reference cDNA sequence and NP_004522.1 as a protein
sequence.