biostudies-literatureUnknown14Cocciadiferro DDesmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations of <i>DHCR24</i> encoding 3-β-hydroxysterol Δ-24-reductase. DHCR24 is regarded as the key enzyme of cholesterol synthesis in the metabolism of brain cholesterol as it catalyzes the reduction of the Δ-24 double bond of sterol intermediates during cholesterol biosynthesis. To date, 15 <i>DHCR24</i> variants, detected in 2 related and 14 unrelated patients, have been associated with the desmosterolosis disorder. Here, we describe a proband harboring the never-described <i>DHCR24</i> homozygous missense variant NM_014762.4:c.506T>C, NP_055577.1:Frontiers in genetics1307934https://www.ebi.ac.uk/biostudies/studies/S-EPMC10795535biostudies-literatureExploiting <i>in silico</i> structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.PMC10795535Bartuli ANovelli AVillani ARizzo CPanfili FMBiagini TMinervino DMacchiaiolo MMazza TVecchio DPetrizzelli FCocciadiferro DAgolini EMartinelli DBoenzi SBuonuomo PSfalseExploiting <i>in silico</i> structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations of <i>DHCR24</i> encoding 3-β-hydroxysterol Δ-24-reductase. DHCR24 is regarded as the key enzyme of cholesterol synthesis in the metabolism of brain cholesterol as it catalyzes the reduction of the Δ-24 double bond of sterol intermediates during cholesterol biosynthesis. To date, 15 <i>DHCR24</i> variants, detected in 2 related and 14 unrelated patients, have been associated with the desmosterolosis disorder. Here, we describe a proband harboring the never-described <i>DHCR24</i> homozygous missense variant NM_014762.4:c.506T>C, NP_055577.1:2023-01-01T00:00:00Z20232026-04-24T03:19:16.509Z2025-04-04T21:57:23.319ZS-EPMC107955353823985410.3389/fgene.2023.1307934