Neonatal hyperpigmentation was referred by the parents. Hormonal data did not show adrenal insufficiency (details are reported in Table 1 ). With respect to the missense mutation, the evaluation of the risk of pathogenicity was thus the result of the following individual tools integration: Table 3. We report the presence of two novel variants on the HSD3B2 gene in the compound heterozygous form that likely caused the 3βHSD2 deficiency with variable expressivity in two siblings, a missense mutation on exon 4 (c.370 A>G) and an intronic mutation on intron 3 (c.308-6 G>A), whose potential pathogenetic effect were evaluated by in-silico analysis and need functional validation. This study contributes to a better understanding of the molecular defects of 3β-HSD and of the phenotypic heterogeneity associated with this enzymatic deficit. 1. Lorence M.C., Murry B.A., Trant J.M., Mason J.I.
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