ArticleEuropean journal of medical genetics2018
Desmosterolosis presenting with multiple congenital anomalies.
Article in European journal of medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Modeling Inherited Disorders of Post-Lanosterol Cholesterol Biosynthesis: From Animal Models to Patient-Derived Stem Cells.International journal of molecular sciences · 2026Review
- Sterol biosynthesis, brain development, and disease.The Journal of clinical investigation · 2026Review
- DHCR24 in cholesterol metabolism and diseases of the nervous system.Lipids in health and disease · 2026Review
- Intervention of ginseng-derived macromolecular drugs in Alzheimer's disease: exploring mechanisms and assessing potential.Frontiers in aging neuroscience · 2026Review
- Exploring Recent Developments in the Manifestation, Diagnosis, and Treatment of Patients with Smith-Lemli-Opitz Syndrome: From Molecular Pathways to Clinical Innovations.International journal of molecular sciences · 2025Review
- Strabismus in Genetic Syndromes: A Review.Clinical & experimental ophthalmology · 2025Review
- Knockouts ofiScience · 2024Article
- Aziridination-Assisted Mass Spectrometry of Nonpolar Sterol Lipids with Isomeric Resolution.Journal of the American Society for Mass Spectrometry · 2023Article
- Toxicology knowledge graph for structural birth defects.Communications medicine · 2023Article
- DHCR24 reverses Alzheimer's disease-related pathology and cognitive impairment via increasing hippocampal cholesterol levels in 5xFAD mice.Acta neuropathologica communications · 2023Article
- DHCR24, a Key Enzyme of Cholesterol Synthesis, Serves as a Marker Gene of the Mouse Adrenal Gland Inner Cortex.International journal of molecular sciences · 2023Article
- ExploitingFrontiers in genetics · 2023Article
- The role of DHCR24 in the pathogenesis of AD: re-cognition of the relationship between cholesterol and AD pathogenesis.Acta neuropathologica communications · 2022Review
- Role of Metabolism in Bone Development and Homeostasis.International journal of molecular sciences · 2020Review
- Genetics and signaling mechanisms of orofacial clefts.Birth defects research · 2020Review
- A gas chromatography-mass spectrometry-based whole-cell screening assay for target identification in distal cholesterol biosynthesis.Nature protocols · 2019Article
- Effect of sterol structure on ordered membrane domain (raft) stability in symmetric and asymmetric vesicles.Biochimica et biophysica acta. Biomembranes · 2019Article
- Identification and characterization of prescription drugs that change levels of 7-dehydrocholesterol and desmosterol.Journal of lipid research · 2018Article
- DHCR24 in Tumor Diagnosis and Treatment: A Comprehensive Review.Technology in cancer research & treatmentReview
Corrections and comments
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Authors and funding
2 authors at 1 institution in 1 country.
Funding
Abstract
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. Defects in this enzyme cause increased level of the cholesterol precursor desmosterol while disrupting development of cholesterol, impacting embryogenesis. A total of 9 cases of desmosterolosis have been reported to date. We report a 20-month-old male from consanguineous parents with multiple congenital anomalies including corpus callosum hypoplasia, facial dysmorphism, cleft palate, pectus deformity, short and wide neck and distal contractures. On analysis of the regions of homozygosity found by microarray, we identified DHCR24 as a candidate gene. Sterol quantitation showed a desmosterol level of 162 μg/mL (nl: 0.82 ± 0.48). Genetic testing confirmed the diagnosis with a homozygous likely pathogenic mutation (p.Glu191Lys) in the DHCR24 gene. Our case expands the known diagnostic spectrum for Desmosterolosis. We suggest considering Desmosterolosis in the differential diagnosis of patients who present with concurrent agenesis of the corpus callosum with white matter atrophy and ventriculomegaly, retromicrognathia with or without cleft palate, hand contractures, and delay of growth and development. Children of consanguineous mattings may be at higher risk for rare recessive disorders and testing for cholesterol synthesis defect should be a consideration for affected children. Initial evaluation can be performed using sterol quantitation, followed by genetic testing.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.