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Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.
Eur J Med Genet. 2021 Jul; 64(7):104229.EJ

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.

Authors+Show Affiliations

Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey. Electronic address: kolkiran@hotmail.com.Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.Department of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

33910095

Citation

Kolkiran, Abdulkerim, et al. "Three New Cases of Crisponi /cold Induced Sweating Syndrome (CS/CISS1) in Turkish Families." European Journal of Medical Genetics, vol. 64, no. 7, 2021, p. 104229.
Kolkiran A, Ürel-Demir G, Şimşek-Kiper PÖ, et al. Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families. Eur J Med Genet. 2021;64(7):104229.
Kolkiran, A., Ürel-Demir, G., Şimşek-Kiper, P. Ö., & Utine, G. E. (2021). Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families. European Journal of Medical Genetics, 64(7), 104229. https://doi.org/10.1016/j.ejmg.2021.104229
Kolkiran A, et al. Three New Cases of Crisponi /cold Induced Sweating Syndrome (CS/CISS1) in Turkish Families. Eur J Med Genet. 2021;64(7):104229. PubMed PMID: 33910095.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families. AU - Kolkiran,Abdulkerim, AU - Ürel-Demir,Gizem, AU - Şimşek-Kiper,Pelin Özlem, AU - Utine,Gülen Eda, Y1 - 2021/04/25/ PY - 2020/05/27/received PY - 2021/03/16/revised PY - 2021/04/13/accepted PY - 2021/4/29/pubmed PY - 2021/8/11/medline PY - 2021/4/28/entrez KW - CRLF1 KW - Cold-induced sweating syndrome 1 KW - Crisponi syndrome SP - 104229 EP - 104229 JF - European journal of medical genetics JO - Eur J Med Genet VL - 64 IS - 7 N2 - 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. SN - 1878-0849 UR - https://www.unboundmedicine.com/medline/citation/33910095/Three_new_cases_of_Crisponi_/cold_induced_sweating_syndrome__CS/CISS1__in_Turkish_families_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S1769-7212(21)00095-1 DB - PRIME DP - Unbound Medicine ER -