{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T07:31:54Z","timestamp":1790839914676,"version":"4.1.0"},"reference-count":16,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2019,3,28]],"date-time":"2019-03-28T00:00:00Z","timestamp":1553731200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2019,5]]},"abstract":"<jats:p>\n                    Crisponi\/cold\u2010induced 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\n                    <jats:italic>CRLF1<\/jats:italic>\n                    (CS\/CISS1),\n                    <jats:italic>CLCF1<\/jats:italic>\n                    (CS\/CISS2) and\n                    <jats:italic>KLHL7<\/jats:italic>\n                    (CS\/CISS\u2010like). Here, a whole exome sequencing approach in individuals with CS\/CISS\u2010like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. This approach identified putative pathogenic variations in\n                    <jats:italic>NALCN, MAGEL2<\/jats:italic>\n                    and\n                    <jats:italic>SCN2A<\/jats:italic>\n                    . 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\u2010Yang syndrome, and the early infantile epileptic encephalopathy\u201011 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\u2010up.\n                  <\/jats:p>","DOI":"10.1111\/cge.13532","type":"journal-article","created":{"date-parts":[[2019,3,12]],"date-time":"2019-03-12T03:10:55Z","timestamp":1552360255000},"page":"607-614","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":14,"title":["Exome sequencing in Crisponi\/cold\u2010induced sweating syndrome\u2013like individuals reveals unpredicted alternative diagnoses"],"prefix":"10.1111","volume":"95","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2596-6461","authenticated-orcid":false,"given":"Andrea","family":"Angius","sequence":"first","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paolo","family":"Uva","sequence":"additional","affiliation":[{"name":"Centre for Advanced Studies Research and Development in Sardinia (CRS4), Science and Technology Park Polaris  Pula Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manuela","family":"Oppo","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato  Cagliari Italy"},{"name":"Dipartimento di Scienze Biomediche Universit\u00e0 degli Studi di Sassari  Sassari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Insa","family":"Buers","sequence":"additional","affiliation":[{"name":"Cells in Motion Cluster of Excellence M\u00fcnster University  M\u00fcnster Germany"},{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivana","family":"Persico","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Onano","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato  Cagliari Italy"},{"name":"Dipartimento di Scienze Biomediche Universit\u00e0 degli Studi di Sassari  Sassari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianmauro","family":"Cuccuru","sequence":"additional","affiliation":[{"name":"Centre for Advanced Studies Research and Development in Sardinia (CRS4), Science and Technology Park Polaris  Pula Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margot I.","family":"Van Allen","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics University of British Columbia  Vancouver British Columbia Canada"},{"name":"Provincial Health Service Authority B.C. Children's and Women's Health Centre  Vancouver British Columbia Canada"},{"name":"Department of Medical Genetics Victoria Island Health Authority  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gurdip","family":"Hulait","sequence":"additional","affiliation":[{"name":"Provincial Health Service Authority B.C. Children's and Women's Health Centre  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gudrun","family":"Aubertin","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics Victoria Island Health Authority  Vancouver British Columbia Canada"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre UCL Great Ormond Street Hospital  London UK"},{"name":"NIHR Biomedical Research Centre at Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew E.","family":"Fry","sequence":"additional","affiliation":[{"name":"Institute of Medical Genetics University Hospital of Wales  Cardiff UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G\u00f6ran","family":"Anner\u00e9n","sequence":"additional","affiliation":[{"name":"Department of Immunology, Genetics and Pathology Uppsala University, Science for Life Laboratory  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eva\u2010Lena","family":"Stattin","sequence":"additional","affiliation":[{"name":"Department of Immunology, Genetics and Pathology Uppsala University, Science for Life Laboratory  Uppsala Sweden"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2727-7654","authenticated-orcid":false,"given":"Mar\u00eda","family":"Palomares\u2010Bralo","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Fernando","family":"Santos\u2010Simarro","sequence":"additional","affiliation":[{"name":"Institute of Medical and Molecular Genetics, University Hospital La Paz, CIBERER, ISCiii  Madrid Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Cucca","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato  Cagliari Italy"},{"name":"Dipartimento di Scienze Biomediche Universit\u00e0 degli Studi di Sassari  Sassari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giangiorgio","family":"Crisponi","sequence":"additional","affiliation":[{"name":"Clinica Sant'Anna  Cagliari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Frank","family":"Rutsch","sequence":"additional","affiliation":[{"name":"Cells in Motion Cluster of Excellence M\u00fcnster University  M\u00fcnster Germany"},{"name":"Department of General Pediatrics M\u00fcnster University Children's Hospital  M\u00fcnster Germany"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9128-8537","authenticated-orcid":false,"given":"Laura","family":"Crisponi","sequence":"additional","affiliation":[{"name":"Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato  Cagliari Italy"},{"name":"Dipartimento di Scienze Biomediche Universit\u00e0 degli Studi di Sassari  Sassari Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2019,3,28]]},"reference":[{"key":"e_1_2_8_2_1","volume-title":"GeneReviews\u00ae","author":"Hahn 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