ArticleAmerican journal of human genetics2007
Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.
Article in American journal of human genetics, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 88 citations in OpenAlex.
- Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.Proceedings of the National Academy of Sciences of the United States of America · 2013Trial
- Lung disease in crisponi/cold-induced sweating syndrome type 1: expanding the clinical phenotype spectrum.European journal of pediatrics · 2026Article
- Surgical Management of Progressive Scoliosis in Crisponi Syndrome: Multidisciplinary Perioperative Strategy and Technical Considerations.Journal of orthopaedic case reports · 2026Article
- Early Diagnostic Markers in Crisponi Syndrome: Two Cases and Review.Journal of clinical medicine · 2025Article
- An Artificial Intelligence Approach to the Craniofacial Recapitulation of Crisponi/Cold-Induced Sweating Syndrome 1 (CISS1/CISS) from Newborns to Adolescent Patients.Diagnostics (Basel, Switzerland) · 2025Article
- Heat stroke associated with novel leukaemia inhibitory factor receptor gene variant in a Chinese infant.Open life sciences · 2025Article
- Observational
- A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.Frontiers in pediatrics · 2024Article
- CRLF1 and CLCF1 in Development, Health and Disease.International journal of molecular sciences · 2022Review
- CRLF1 Is a Key Regulator in the Ligamentum Flavum Hypertrophy.Frontiers in cell and developmental biology · 2020Article
- Analysis of a Sardinian Multiplex Family with Autism Spectrum Disorder Points to Post-Synaptic Density Gene Variants and IdentifiesJournal of clinical medicine · 2019Article
- New macular findings in individuals with biallelic KLHL7 gene mutation.BMJ open ophthalmology · 2019Article
- SorLA and CLC:CLF-1-dependent Downregulation of CNTFRα as Demonstrated by Western Blotting, Inhibition of Lysosomal Enzymes, and Immunocytochemistry.Journal of visualized experiments : JoVE · 2017Article
- Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.American journal of human genetics · 2016Article
- Cytokine-Like Factor 1, an Essential Facilitator of Cardiotrophin-Like Cytokine:Ciliary Neurotrophic Factor Receptor α Signaling and sorLA-Mediated Turnover.Molecular and cellular biology · 2016Article
- Stüve-Wiedemann Syndrome: Update on Clinical and Genetic Aspects.Molecular syndromology · 2016Review
- Neuropathies of Stüve-Wiedemann Syndrome due to mutations in leukemia inhibitory factor receptor (LIFR) gene.Journal of neurology & neuromedicine · 2016Article
- Janus kinase 2/signal transducer and activator of transcription 3 inhibitors attenuate the effect of cardiotrophin-like cytokine factor 1 and human focal segmental glomerulosclerosis serum on glomerular filtration barrier.Translational research : the journal of laboratory and clinical medicine · 2015Article
- De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.American journal of human genetics · 2015Article
- Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology.Orphanet journal of rare diseases · 2014Review
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22 authors at 11 institutions in 5 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Crisponi syndrome is a severe autosomal recessive condition that is phenotypically characterized by abnormal, paroxysmal muscular contractions resembling neonatal tetanus, large face, broad nose, anteverted nares, camptodactyly, hyperthermia, and sudden death in most cases. We performed homozygosity mapping in five Sardinian and three Turkish families with Crisponi syndrome, using high-density single-nucleotide polymorphism arrays, and identified a critical region on chromosome 19p12-13.1. The most prominent candidate gene was CRLF1, recently found to be involved in the pathogenesis of cold-induced sweating syndrome type 1 (CISS1). CISS1 belongs to a group of conditions with overlapping phenotypes, also including cold-induced sweating syndrome type 2 and Stuve-Wiedemann syndrome. All these syndromes are caused by mutations of genes of the ciliary neurotrophic factor (CNTF)-receptor pathway. Here, we describe the identification of four different CRLF1 mutations in eight different Crisponi-affected families, including a missense mutation, a single-nucleotide insertion, and a nonsense and an insertion/deletion (indel) mutation, all segregating with the disease trait in the families. Comparison of the mutation spectra of Crisponi syndrome and CISS1 suggests that neither the type nor the location of the CRLF1 mutations points to a phenotype/genotype correlation that would account for the most severe phenotype in Crisponi syndrome. Other, still-unknown molecular factors may be responsible for the variable phenotypic expression of the CRLF1 mutations. We suggest that the syndromes can comprise a family of "CNTF-receptor-related disorders," of which Crisponi syndrome would be the newest member and allelic to CISS1.
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