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Page 1
Cholesterol metabolism deficiency.
Jira P. Jira P. Handb Clin Neurol. 2013;113:1845-50. doi: 10.1016/B978-0-444-59565-2.00054-X. Handb Clin Neurol. 2013. PMID: 23622407 Review.
Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inherited and male-lethal disorders, Conradi-Hunermann-Happle syndrome and congenital hemidysplasia with ichthyosiform erythroderma and limb defects (CHILD), and at …
Six defects in the post-squalene segment of the pathway include: Smith-Lemli-Opitz syndrome, two X-linked dominant inherited and male-lethal …
Desmosterolosis-phenotypic and molecular characterization of a third case and review of the literature.
Schaaf CP, Koster J, Katsonis P, Kratz L, Shchelochkov OA, Scaglia F, Kelley RI, Lichtarge O, Waterham HR, Shinawi M. Schaaf CP, et al. Am J Med Genet A. 2011 Jul;155A(7):1597-604. doi: 10.1002/ajmg.a.34040. Epub 2011 Jun 10. Am J Med Genet A. 2011. PMID: 21671375 Free PMC article. Review.
Desmosterolosis, a rare disorder of cholesterol biosynthesis, is caused by mutations in DHCR24, the gene encoding the enzyme 24-dehydrocholesterol reductase (DHCR24). To date, desmosterolosis has been described in only two patients. Here we report on a third patient …
Desmosterolosis, a rare disorder of cholesterol biosynthesis, is caused by mutations in DHCR24, the gene encoding the enzyme 24-dehyd …
Raine syndrome: an overview.
Faundes V, Castillo-Taucher S, Gonzalez-Hormazabal P, Chandler K, Crosby A, Chioza B. Faundes V, et al. Eur J Med Genet. 2014 Sep;57(9):536-42. doi: 10.1016/j.ejmg.2014.07.001. Epub 2014 Jul 12. Eur J Med Genet. 2014. PMID: 25019372 Review.
Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolosis and congenital cytomegalovirus infection may resemble Raine syndrome. If Raine syndrome is suspected prenatally the newborn should be …
Facial appearance and radiological findings allow the clinical diagnosis, and molecular testing of FAM20C can confirm this. Desmosterolos …
First case of desmosterolosis diagnosed by prenatal whole exome sequencing.
Hill C, Noureldein M, Karkhanis P, Kinning E, Vijay S, Gowda H. Hill C, et al. Am J Med Genet A. 2023 Mar;191(3):859-863. doi: 10.1002/ajmg.a.63083. Epub 2022 Dec 20. Am J Med Genet A. 2023. PMID: 36538928
Desmosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis resulting in multiple congenital abnormalities and syndromic intellectual disability. It is caused by defects in DHCR24, the gene encoding 3-beta-hydroxysterol-24-reductase (24-dehydrocholes …
Desmosterolosis is a rare autosomal recessive disorder of cholesterol biosynthesis resulting in multiple congenital abnormalities and …
Desmosterolosis presenting with multiple congenital anomalies.
Rohanizadegan M, Sacharow S. Rohanizadegan M, et al. Eur J Med Genet. 2018 Mar;61(3):152-156. doi: 10.1016/j.ejmg.2017.11.009. Epub 2017 Nov 23. Eur J Med Genet. 2018. PMID: 29175559 Free PMC article.
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reductase (DHCR24) in the cholesterol biosynthesis pathway. ...Our case expands the known diagnostic spectrum for Desmosterolosis. We sugges …
Desmosterolosis is a rare multiple congenital anomaly syndrome caused by a defect in the enzyme 3-beta-hydroxysterol delta-24-reducta …
Sterol metabolism disorders and neurodevelopment-an update.
Kanungo S, Soares N, He M, Steiner RD. Kanungo S, et al. Dev Disabil Res Rev. 2013;17(3):197-210. doi: 10.1002/ddrr.1114. Dev Disabil Res Rev. 2013. PMID: 23798009 Review.
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that underlie the clinical presentations and course of Smith-Lemli-Opitz Syndrome (SLOS), mevalonic aciduria (MVA) or the milder version hyper-immun …
In this article, we review sterol synthesis disorders in the pre- and post-squalene pathway highlighting neurodevelopmental aspects that und …
The desmosterolosis phenotype: spasticity, microcephaly and micrognathia with agenesis of corpus callosum and loss of white matter.
Zolotushko J, Flusser H, Markus B, Shelef I, Langer Y, Heverin M, Björkhem I, Sivan S, Birk OS. Zolotushko J, et al. Eur J Hum Genet. 2011 Sep;19(9):942-6. doi: 10.1038/ejhg.2011.74. Epub 2011 May 11. Eur J Hum Genet. 2011. PMID: 21559050 Free PMC article.
Desmosterolosis is a rare autosomal recessive disorder of elevated levels of the cholesterol precursor desmosterol in plasma, tissue and cultured cells. ...We thus establish a clear consistent phenotype of desmosterolosis (MIM 602398)....
Desmosterolosis is a rare autosomal recessive disorder of elevated levels of the cholesterol precursor desmosterol in plasma, tissue …
Subcellular localization of sterol biosynthesis enzymes.
Koczok K, Gurumurthy CB, Balogh I, Korade Z, Mirnics K. Koczok K, et al. J Mol Histol. 2019 Feb;50(1):63-73. doi: 10.1007/s10735-018-9807-y. Epub 2018 Dec 8. J Mol Histol. 2019. PMID: 30535733 Free PMC article.
Furthermore, the newly uncovered compensatory mechanism between DHCR7 and DHCR24 could be of importance for designing medications that would improve cholesterol production in patients with desmosterolosis and Smith-Lemli-Opitz syndrome....
Furthermore, the newly uncovered compensatory mechanism between DHCR7 and DHCR24 could be of importance for designing medications that would …
Clinical phenotype of desmosterolosis.
FitzPatrick DR, Keeling JW, Evans MJ, Kan AE, Bell JE, Porteous ME, Mills K, Winter RM, Clayton PT. FitzPatrick DR, et al. Am J Med Genet. 1998 Jan 13;75(2):145-52. Am J Med Genet. 1998. PMID: 9450875
Genetic defects in postsqualene cholesterol biosynthesis.
Moebius FF, Fitzky BU, Glossmann H. Moebius FF, et al. Trends Endocrinol Metab. 2000 Apr;11(3):106-14. doi: 10.1016/s1043-2760(00)00235-6. Trends Endocrinol Metab. 2000. PMID: 10707051 Review.
They impair the activity of a putative C3-sterol dehydrogenase (Nshdl, X-linked dominant bare patches/striated mutation in mice), the sterol delta 8-delta 7 isomerase/EBP (Ebp, X-linked dominant tattered mutation in mice; chondrodysplasia punctata (CDPX2) in humans), the delta 24 …
They impair the activity of a putative C3-sterol dehydrogenase (Nshdl, X-linked dominant bare patches/striated mutation in mice), the sterol …
41 results