ArticleAmerican journal of human genetics2018
Bi-allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex.
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers, 1 of them a synthesis that pooled it.
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Who cites it
35 citing papers in PubMed, 1 synthesis or guideline pooled it, 76 citations in OpenAlex.
- Chemical Inhibition of Sterol Biosynthesis.Biomolecules · 2024Pooled it
- Steroidogenic compensation and lipid deficiency with enhanced NADThe FEBS journal · 2026Article
- Sterol biosynthesis, brain development, and disease.The Journal of clinical investigation · 2026Review
- Case Report: Compound heterozygous variants inFrontiers in medicine · 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
- Hypotrichosis 14: novel variants of the LSS gene in five Chinese families and insights from literature review.Human genomics · 2025Review
- ATR promotes mTORC1 activity via de novo cholesterol synthesis.EMBO reports · 2025Article
- Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis.The Australasian journal of dermatology · 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
- Phenotype-genotype correlation of patients with congenital cataracts and hair anomalies.Molecular vision · 2025Article
- Altered chromatin topologies caused by balanced chromosomal translocation lead to central iris hypoplasia.Nature communications · 2024Article
- Clinical and genetic analyses of APMR4 syndrome caused by novel biallelicFrontiers in neuroscience · 2024Article
- The history of Coast Salish "woolly dogs" revealed by ancient genomics and Indigenous Knowledge.Science (New York, N.Y.) · 2023Article
- Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits.Clinical genetics · 2023Review
- HUB genes transcriptionally regulate lipid metabolism in alveolar type II cells under LPS stimulation.Heliyon · 2023Article
- Development of Woolly Hair and Hairlessness in a CRISPR-Engineered Mutant Mouse Model with KRT71 Mutations.Cells · 2023Article
- Comparative Analyses Reveal the Genetic Mechanism of Ambergris Production in the Sperm Whale Based on the Chromosome-Level Genome.Animals : an open access journal from MDPI · 2023Article
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Authors and funding
22 authors at 10 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hypotrichosis simplex (HS) is a rare form of hereditary alopecia characterized by childhood onset of diffuse and progressive scalp and body hair loss. Although research has identified a number of causal genes, genetic etiology in about 50% of HS cases remains unknown. The present report describes the identification via whole-exome sequencing of five different mutations in the gene LSS in three unrelated families with unexplained, potentially autosomal-recessive HS. Affected individuals showed sparse to absent lanugo-like scalp hair, sparse and brittle eyebrows, and sparse eyelashes and body hair. LSS encodes lanosterol synthase (LSS), which is a key enzyme in the cholesterol biosynthetic pathway. This pathway plays an important role in hair follicle biology. After localizing LSS protein expression in the hair shaft and bulb of the hair follicle, the impact of the mutations on keratinocytes was analyzed using immunoblotting and immunofluorescence. Interestingly, wild-type LSS was localized in the endoplasmic reticulum (ER), whereas mutant LSS proteins were localized in part outside of the ER. A plausible hypothesis is that this mislocalization has potential deleterious implications for hair follicle cells. Immunoblotting revealed no differences in the overall level of wild-type and mutant protein. Analyses of blood cholesterol levels revealed no decrease in cholesterol or cholesterol intermediates, thus supporting the previously proposed hypothesis of an alternative cholesterol pathway. The identification of LSS as causal gene for autosomal-recessive HS highlights the importance of the cholesterol pathway in hair follicle biology and may facilitate novel therapeutic approaches for hair loss disorders in general.
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