ArticleAmerican journal of human genetics2010
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Article in American journal of human genetics, 2010. 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, 74 citations in OpenAlex.
- Prenatal MRI features of fetal complete agenesis of the corpus callosum associated with unilateral hemispheric cortical malformation: a retrospective study.Frontiers in radiology · 2026Article
- HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.Brain : a journal of neurology · 2025Article
- Novel sterol binding domains in bacteria.eLife · 2024Article
- The cholesterol biosynthesis enzyme FAXDC2 couples Wnt/β-catenin to RTK/MAPK signaling.The Journal of clinical investigation · 2024Article
- Structural enzymology of cholesterol biosynthesis and storage.Current opinion in structural biology · 2022Review
- Microcephaly in Neurometabolic Diseases.Children (Basel, Switzerland) · 2022Review
- A novel NSDHL variant in CHILD syndrome with gastrointestinal manifestations and localized skin involvement.Molecular genetics & genomic medicine · 2022Article
- mTOR Driven Gene Transcription Is Required for Cholesterol Production in Neurons of the Developing Cerebral Cortex.International journal of molecular sciences · 2021Article
- Crystal structures of human NSDHL and development of its novel inhibitor with the potential to suppress EGFR activity.Cellular and molecular life sciences : CMLS · 2021Article
- Metabolism and Biological Activities of 4-Methyl-Sterols.Molecules (Basel, Switzerland) · 2019Review
- NSDHL-containing duplication at Xq28 in a male patient with autism spectrum disorder: a case report.BMC medical genetics · 2018Article
- Update on Genetic Conditions Affecting the Skin and the Kidneys.Frontiers in pediatrics · 2018Review
- Liver and the defects of cholesterol and bile acids biosynthesis: Rare disorders many diagnostic pitfalls.World journal of gastroenterology · 2017Article
- Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.Neurobiology of disease · 2016Article
- FR171456 is a specific inhibitor of mammalian NSDHL and yeast Erg26p.Nature communications · 2015Article
- Endogenous Sterol Metabolites Regulate Growth of EGFR/KRAS-Dependent Tumors via LXR.Cell reports · 2015Article
- Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis.Pediatric radiology · 2015Review
- Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development.Human molecular genetics · 2015Article
- Malformations of cortical development: clinical features and genetic causes.The Lancet. Neurology · 2014Review
- Desmosterolosis: an illustration of diagnostic ambiguity of cholesterol synthesis disorders.Orphanet journal of rare diseases · 2014Article
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Authors and funding
40 authors at 13 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CK syndrome (CKS) is an X-linked recessive intellectual disability syndrome characterized by dysmorphism, cortical brain malformations, and an asthenic build. Through an X chromosome single-nucleotide variant scan in the first reported family, we identified linkage to a 5 Mb region on Xq28. Sequencing of this region detected a segregating 3 bp deletion (c.696_698del [p.Lys232del]) in exon 7 of NAD(P) dependent steroid dehydrogenase-like (NSDHL), a gene that encodes an enzyme in the cholesterol biosynthesis pathway. We also found that males with intellectual disability in another reported family with an NSDHL mutation (c.1098 dup [p.Arg367SerfsX33]) have CKS. These two mutations, which alter protein folding, show temperature-sensitive protein stability and complementation in Erg26-deficient yeast. As described for the allelic disorder CHILD syndrome, cells and cerebrospinal fluid from CKS patients have increased methyl sterol levels. We hypothesize that methyl sterol accumulation, not only cholesterol deficiency, causes CKS, given that cerebrospinal fluid cholesterol, plasma cholesterol, and plasma 24S-hydroxycholesterol levels are normal in males with CKS. In summary, CKS expands the spectrum of cholesterol-related disorders and insight into the role of cholesterol in human development.
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