Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families |
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| Authors: | Abdulkerim Kolkiran Gizem Ürel-Demir Pelin Özlem Şimşek-Kiper Gülen Eda Utine |
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| Affiliation: | 1. Hacettepe University Faculty of Medicine, Department of Pediatric Metabolism, Ankara, Turkey;2. Hacettepe University Faculty of Medicine, Department of Pediatric Neurology, Ankara, Turkey;3. Hacettepe University Institute of Child Health, Ankara, Turkey;4. Hacettepe University Faculty of Medicine, Department of Radiology, Ankara, Turkey;5. Hacettepe University Institute of Health Sciences, Department of Bioinformatics, Ankara, Turkey;1. Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy;2. Institute of Physiology, University of Wuerzburg, 97070 Wuerzburg, Germany;3. Institute of Human Genetics, University Hospital Magdeburg, 39120 Magdeburg, Germany;4. Assistance Publique des Hôpitaux de Paris (AP-HP), Hôpital Robert Debré, Département de Génétique, 75019 Paris, France;5. INSERM UMR 1131, Institut de Recherche Saint-Louis, Université de Paris, Paris, France;6. Department of Pediatric Genetics, Hacettepe University Faculty of Medicine, Sihhiye, 06100 Ankara, Turkey;7. Department of Medical Genetics, Health Sciences University, Istanbul Kanuni Sultan Suleyman Training and Research Hospital, 34303 Istanbul, Turkey;8. Department of Pediatrics-PUC, Béchir Hamza Children’s Hospital, Faculty of Medicine, University of Tunis El Manar, Jebbari 1007, Tunis, Tunisia;9. Dipartimento per la Innovazione nei Sistemi Biologici, Agroalimentari e Forestali, Università Della Tuscia, 01100 Viterbo, Italy;10. Confocal Microscopy Core Facility, Ospedale Pediatrico Bambino Gesù, 00146 Rome, Italy;11. Medical Genetics Division, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy;12. Department of Human Genetics, Radboudumc, 6525 GA Nijmegen, the Netherlands;13. Donders Institute for Brain, Cognition and Behaviour, Radboud University, 6525 GA Nijmegen, the Netherlands;14. Department of Immunology, Pasteur Institute of Tunis, 1002 Tunis-Belvédère, Tunisia;15. Genetica Medica, IRCCS Azienda Ospedaliero-Universitaria di Bologna, 40138 Bologna, Italy;16. Mindich Child Health and Development Institute and Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA;17. Istituto di Biomembrane, Bioenergetica e Biotecnologie Molecolari, Centro Nazionale Delle Ricerche, 70126 Bari, Italy |
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| Abstract: | Crisponi syndrome/Cold Induced Sweating Syndrome 1 (CS/CISS1) is a rare, autosomal recessive, multisystemic disease. Hyperthermia attacks, abnormal contractions in the muscles of the face and oropharynx, respiratory distress, camptodactyly, and swallowing difficulty are the main features of the condition in the neonatal period. Patients experience cold-induced sweating attacks and progressive kyphoscoliosis in childhood and adolescence. Mutations in the cytokine receptor like factor 1 (CRLF1) gene causes the CISS1 (Cold- induced sweating syndrome type 1) disease (over 95% of patients). CRLF1 is located in the ciliary neurotrophic factor receptor (CNTFR) pathway, which plays an important role in development and maintenance of neurons in the nervous system. In this study three patients from Turkey, clinically and molecularly diagnosed with CS/CISS1, are presented. Hyperthermia, swallowing difficulty, camptodactyly and pursing of the lips were present in all patients, and foot deformity in one patient. In the first patient a homozygous nonsense mutation NM_004750.5: c.531G > A; p.(Trp177Ter) in the 4th exon was detected. In the second patient a homozygous nonsense mutation NM_004750.5: c.776C > A; p.(Ser259Ter) in the 5th exon was detected. The third patient was homozygous for a missense mutation NM_004750.5: c.935G > T; p.(Arg312Leu) in the 6th exon. Early diagnosis is very important in this syndrome since most patients die in the neonatal period. Therefore, physicians should be suspicious for this disease in patients with dysmorphic features, hyperthermia attacks, camptodactyly, pursing of lips while crying, and swallowing difficulty. |
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| Keywords: | Cold-induced sweating syndrome 1 Crisponi syndrome CRLF1 |
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