ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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27 citing papers in PubMed, 57 citations in OpenAlex.
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- Network and molecular insights into the antidiabetic potential of squalene in alloxan-induced diabetes.Scientific reports · 2026Article
- Dysregulated cholesterol metabolism in genodermatoses: implications for systemic disease and therapeutic strategies.Frontiers in cell and developmental biology · 2026Review
- Case Report: Compound heterozygous variants inFrontiers in medicine · 2026Article
- Transcriptome and metabolite profiling reveals the mechanism of hepatic lipid metabolism during fasting in chicken.Animal bioscience · 2026Article
- Novel variants in LSS related hypotrichosis simplex 14.Frontiers in genetics · 2026Article
- Novel biallelic LSS variants in autosomal recessive hypotrichosis simplex: insights from a multi-omics approach.Human genetics · 2025Article
- Per- and Polyfluoroalkyl Substances (PFAS) Enhance Cholesterol Accumulation and Dysregulate Inflammatory Responses in Macrophages.Cardiovascular toxicology · 2025Article
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.Human genomics · 2025Review
- Embryotoxicity of statins and other prescribed drugs with reported off-target effects on cholesterol biosynthesis.Reproductive toxicology (Elmsford, N.Y.) · 2025Article
- Autosomal recessive hereditary hypotrichosis simplex: A case report.JAAD case reports · 2025Article
- Congenital hypotrichosis caused by compound heterozygous variants in the LSS gene in a Chinese patient with strabismus: case report.Frontiers in pediatrics · 2025Article
- Clinical and genetic analyses of APMR4 syndrome caused by novel biallelicFrontiers in neuroscience · 2024Article
- Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.Clinical genetics · 2023Review
- Integrated multi-omics and machine learning approach reveals lipid metabolic biomarkers and signaling in age-related meibomian gland dysfunction.Computational and structural biotechnology journal · 2023Article
- Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.Frontiers in cell and developmental biology · 2023Article
- Alopecia and hyperpigmentation in a neonatal patient with lanosterol synthase gene deficiency and Spectrin alpha, non-erythrocytic 1 mutation.Pediatric dermatology · 2022Article
- Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene and Review of Literature.Journal of molecular neuroscience : MN · 2022Review
- Unclassified white matter disorders: A diagnostic journey requiring close collaboration between clinical and laboratory services.European journal of medical genetics · 2022Article
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Authors and funding
39 authors at 14 institutions in 4 countries.
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Abstract
purposeLanosterol synthase (LSS) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS associated with hypotrichosis simplex. We expanded the phenotypic spectrum of LSS to a recessive neuroectodermal syndrome formerly named alopecia with mental retardation (APMR) syndrome. It is a rare autosomal recessive condition characterized by hypotrichosis and intellectual disability (ID) or developmental delay (DD), frequently associated with early-onset epilepsy and other dermatological features.
methodsThrough a multicenter international collaborative study, we identified LSS pathogenic variants in APMR individuals either by exome sequencing or LSS Sanger sequencing. Splicing defects were assessed by transcript analysis and minigene assay.
resultsWe reported ten APMR individuals from six unrelated families with biallelic variants in LSS. We additionally identified one affected individual with a single rare variant in LSS and an allelic imbalance suggesting a second event. Among the identified variants, two were truncating, seven were missense, and two were splicing variants. Quantification of cholesterol and its precursors did not reveal noticeable imbalance.
conclusionIn the cholesterol biosynthesis pathway, lanosterol synthase leads to the cyclization of (S)-2,3-oxidosqualene into lanosterol. Our data suggest LSS as a major gene causing a rare recessive neuroectodermal syndrome.
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