Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2
Yang F, Jiang X, Zhu Y, Lee M, Xu Z, Zhang J, Li Q, Lin M, Wang H, Lin Z. Biallelic Variants in Lanosterol Synthase (LSS) Cause Palmoplantar Keratoderma-Congenital Alopecia Syndrome Type 2. Journal Of Investigative Dermatology 2022, 142: 2687-2694.e2. PMID: 35413293, DOI: 10.1016/j.jid.2022.03.023.Peer-Reviewed Original ResearchConceptsLanosterol synthaseBiallelic variantsType 2N-terminally truncated proteinLanosterol synthase genesAlternative translation initiationEarly-onset cataractLoss of enzymatic activityCholesterol biosynthesis pathwayPremature stop codonAutosomal recessive disorderCholesterol synthesis pathwayEx vivo studiesType 2 casesLanosterol levelsBiosynthesis pathwayTranslation initiationSplice siteStop codonClinical featuresGenetic basisCornified envelope formationRecessive disorderCausative genesSynthesis pathway
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