ArticleAmerican journal of human genetics2004
Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.
Article in American journal of human genetics, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 75 papers, 1 of them a synthesis that pooled it.
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Who cites it
75 citing papers in PubMed, 1 synthesis or guideline pooled it, 184 citations in OpenAlex.
- Clinical overview and outcome of the Stuve-Wiedemann syndrome: a systematic review.Orphanet journal of rare diseases · 2022Pooled it
- Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin.The Journal of clinical investigation · 2016Trial
- Myotonia: Recognition, Evaluation, and Differential Diagnosis.Muscle & nerve · 2026Review
- Autosomal recessive OSMRβ deficiency: Connecting OSM and/or IL-31 with atopy.Journal of human immunity · 2026Article
- Severe Suprasystemic Refractory Pulmonary Hypertension in a Neonate with Stüve-Wiedemann Syndrome Associated with Biallelic LIFR Variants: Molecular Insights and a Neonatal Case Report.International journal of molecular sciences · 2026Article
- Human germline biallelic loss-of-functionJournal of human immunity · 2026Article
- Oncostatin M receptor deficiency as a novel candidate genetic cause of autosomal recessive hyper-IgE syndrome.Journal of human immunity · 2026Article
- Single-cell atlas of the developing Down syndrome brain cortex.Nature medicine · 2026Article
- Novel Genetic Findings in Stuve-Wiedemann Syndrome: A Case Report and Review of Literature.Clinical case reports · 2026Article
- Fine mapping of heterozygous IL6ST nonsense variants underlying autosomal dominant hyper-IgE syndrome.JCI insight · 2025Article
- Interleukin-11 Is Involved in Hyperoxia-induced Bronchopulmonary Dysplasia in Newborn Mice by Mediating Epithelium-Fibroblast Cross-talk.Inflammation · 2025Article
- Article
- Human oncostatin M deficiency underlies an inherited severe bone marrow failure syndrome.The Journal of clinical investigation · 2025Article
- A comparative view of human and mouse telencephalon inhibitory neuron development.Development (Cambridge, England) · 2025Review
- Heat stroke associated with novel leukaemia inhibitory factor receptor gene variant in a Chinese infant.Open life sciences · 2025Article
- Case Report: New phenotype of late-onset Stüve-Wiedemann syndrome due to a C-terminal variant in theFrontiers in pediatrics · 2024Article
- A novel termination site in a case of Stüve-Wiedemann syndrome: case report and review of literature.Frontiers in pediatrics · 2024Article
- The Human GP130 Cytokine Receptor and Its Expression-an Atlas and Functional Taxonomy of Genetic Variants.Journal of clinical immunology · 2023Review
- Interleukin-11 and its eminent role in tissue fibrosis: a possible therapeutic target.Clinical and experimental immunology · 2023Review
- LIF signaling regulates outer radial glial to interneuron fate during human cortical development.Cell stem cell · 2023Article
15 more citing papers are in PubMed but not listed here.
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Authors and funding
20 authors at 9 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Stuve-Wiedemann syndrome (SWS) is a severe autosomal recessive condition characterized by bowing of the long bones, with cortical thickening, flared metaphyses with coarsened trabecular pattern, camptodactyly, respiratory distress, feeding difficulties, and hyperthermic episodes responsible for early lethality. Clinical overlap with Schwartz-Jampel type 2 syndrome (SJS2) has suggested that SWS and SJS2 could be allelic disorders. Through studying a series of 19 families with SWS/SJS2, we have mapped the disease gene to chromosome 5p13.1 at locus D5S418 (Zmax=10.66 at theta =0) and have identified null mutations in the leukemia inhibitory factor receptor (LIFR or gp190 chain) gene. A total of 14 distinct mutations were identified in the 19 families. An identical frameshift insertion (653_654insT) was identified in families from the United Arab Emirates, suggesting a founder effect in that region. It is interesting that 12/14 mutations predicted premature termination of translation. Functional studies indicated that these mutations alter the stability of LIFR messenger RNA transcripts, resulting in the absence of the LIFR protein and in the impairment of the JAK/STAT3 signaling pathway in patient cells. We conclude, therefore, that SWS and SJS2 represent a single clinically and genetically homogeneous condition due to null mutations in the LIFR gene on chromosome 5p13.
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