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Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.
Clin Genet. 2019 05; 95(5):607-614.CG

Abstract

Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), CLCF1 (CS/CISS2) and KLHL7 (CS/CISS-like). Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. This approach identified putative pathogenic variations in NALCN, MAGEL2 and SCN2A. They were already found implicated in the pathogenesis of other syndromes, respectively the congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome, the Schaaf-Yang syndrome, and the early infantile epileptic encephalopathy-11 syndrome. These results suggest a high neonatal phenotypic overlap among these disorders and will be very helpful for clinicians. Genetic analysis of these genes should be considered for those cases with a suspected CS/CISS during neonatal period who were tested as mutation negative in the known CS/CISS genes, because an expedited and corrected diagnosis can improve patient management and can provide a specific clinical follow-up.

Authors+Show Affiliations

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy.Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy. Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.Cells in Motion Cluster of Excellence, Münster University, Münster, Germany. Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy. Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.Centre for Advanced Studies, Research and Development in Sardinia (CRS4), Science and Technology Park Polaris, Pula, Italy.Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia, Canada. Provincial Health Service Authority, B.C. Children's and Women's Health Centre, Vancouver, British Columbia, Canada. Department of Medical Genetics, Victoria Island Health Authority, Vancouver, British Columbia, Canada.Provincial Health Service Authority, B.C. Children's and Women's Health Centre, Vancouver, British Columbia, Canada.Department of Medical Genetics, Victoria Island Health Authority, Vancouver, British Columbia, Canada.Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK. NIHR Biomedical Research Centre at Great Ormond Street Hospital, London, UK.Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.Department of Immunology, Genetics and Pathology, Uppsala University, Science for Life Laboratory, Uppsala, Sweden.Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii, Madrid, Spain.Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii, Madrid, Spain.Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy. Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.Clinica Sant'Anna, Cagliari, Italy.Cells in Motion Cluster of Excellence, Münster University, Münster, Germany. Department of General Pediatrics, Münster University Children's Hospital, Münster, Germany.Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy. Dipartimento di Scienze Biomediche, Università degli Studi di Sassari, Sassari, Italy.

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

30859550

Citation

Angius, Andrea, et al. "Exome Sequencing in Crisponi/cold-induced Sweating Syndrome-like Individuals Reveals Unpredicted Alternative Diagnoses." Clinical Genetics, vol. 95, no. 5, 2019, pp. 607-614.
Angius A, Uva P, Oppo M, et al. Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. Clin Genet. 2019;95(5):607-614.
Angius, A., Uva, P., Oppo, M., Buers, I., Persico, I., Onano, S., Cuccuru, G., Van Allen, M. I., Hulait, G., Aubertin, G., Muntoni, F., Fry, A. E., Annerén, G., Stattin, E. L., Palomares-Bralo, M., Santos-Simarro, F., Cucca, F., Crisponi, G., Rutsch, F., & Crisponi, L. (2019). Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. Clinical Genetics, 95(5), 607-614. https://doi.org/10.1111/cge.13532
Angius A, et al. Exome Sequencing in Crisponi/cold-induced Sweating Syndrome-like Individuals Reveals Unpredicted Alternative Diagnoses. Clin Genet. 2019;95(5):607-614. PubMed PMID: 30859550.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses. AU - Angius,Andrea, AU - Uva,Paolo, AU - Oppo,Manuela, AU - Buers,Insa, AU - Persico,Ivana, AU - Onano,Stefano, AU - Cuccuru,Gianmauro, AU - Van Allen,Margot I, AU - Hulait,Gurdip, AU - Aubertin,Gudrun, AU - Muntoni,Francesco, AU - Fry,Andrew E, AU - Annerén,Göran, AU - Stattin,Eva-Lena, AU - Palomares-Bralo,María, AU - Santos-Simarro,Fernando, AU - Cucca,Francesco, AU - Crisponi,Giangiorgio, AU - Rutsch,Frank, AU - Crisponi,Laura, Y1 - 2019/03/28/ PY - 2018/12/18/received PY - 2019/02/20/revised PY - 2019/03/08/accepted PY - 2019/3/13/pubmed PY - 2020/7/7/medline PY - 2019/3/13/entrez KW - CRLF1 KW - Crisponi/cold-induced sweating syndrome KW - MAGEL2 KW - NALCN KW - SCN2A KW - whole exome sequencing SP - 607 EP - 614 JF - Clinical genetics JO - Clin Genet VL - 95 IS - 5 N2 - Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), CLCF1 (CS/CISS2) and KLHL7 (CS/CISS-like). Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. This approach identified putative pathogenic variations in NALCN, MAGEL2 and SCN2A. They were already found implicated in the pathogenesis of other syndromes, respectively the congenital contractures of the limbs and face, hypotonia, and developmental delay syndrome, the Schaaf-Yang syndrome, and the early infantile epileptic encephalopathy-11 syndrome. These results suggest a high neonatal phenotypic overlap among these disorders and will be very helpful for clinicians. Genetic analysis of these genes should be considered for those cases with a suspected CS/CISS during neonatal period who were tested as mutation negative in the known CS/CISS genes, because an expedited and corrected diagnosis can improve patient management and can provide a specific clinical follow-up. SN - 1399-0004 UR - https://www.unboundmedicine.com/medline/citation/30859550/Exome_sequencing_in_Crisponi/cold_induced_sweating_syndrome_like_individuals_reveals_unpredicted_alternative_diagnoses_ L2 - https://doi.org/10.1111/cge.13532 DB - PRIME DP - Unbound Medicine ER -