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Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.
Hum Mutat. 2014 Apr; 35(4):424-33.HM

Abstract

Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis, and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia associated with death in most cases in the first years of life. To date, 24 distinct CRLF1 mutations have been found either in homozygosity or in compound heterozygosity in CS/CISS1 patients, with the highest prevalence in Sardinia, Turkey, and Spain. By reporting 11 novel CRLF1 mutations, here we expand the mutational spectrum of CRLF1 in the CS/CISS1 syndrome to a total of 35 variants and present an overview of the different molecular and clinical features of all of them. To catalog all the 35 mutations, we created a CRLF1 mutations database, based on the Leiden Open (source) Variation Database (LOVD) system (https://grenada.lumc.nl/LOVD2/mendelian_genes/variants). Overall, the available functional and clinical data support the fact that both syndromes actually represent manifestations of the same autosomal-recessive disorder caused by mutations in the CRLF1 gene. Therefore, we propose to rename the two overlapping entities with the broader term of Crisponi/CISS1 syndrome.

Authors+Show Affiliations

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche, Cagliari, Italy; Department of Public Health and Clinical and Molecular Medicine, University of Cagliari, Cagliari, Italy.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

24488861

Citation

Piras, Roberta, et al. "Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome." Human Mutation, vol. 35, no. 4, 2014, pp. 424-33.
Piras R, Chiappe F, Torraca IL, et al. Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. Hum Mutat. 2014;35(4):424-33.
Piras, R., Chiappe, F., Torraca, I. L., Buers, I., Usala, G., Angius, A., Akin, M. A., Basel-Vanagaite, L., Benedicenti, F., Chiodin, E., El Assy, O., Feingold-Zadok, M., Guibert, J., Kamien, B., Kasapkara, C. S., Kiliç, E., Boduroğlu, K., Kurtoglu, S., Manzur, A. Y., ... Rutsch, F. (2014). Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. Human Mutation, 35(4), 424-33. https://doi.org/10.1002/humu.22522
Piras R, et al. Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome. Hum Mutat. 2014;35(4):424-33. PubMed PMID: 24488861.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome. AU - Piras,Roberta, AU - Chiappe,Francesca, AU - Torraca,Ilaria La, AU - Buers,Insa, AU - Usala,Gianluca, AU - Angius,Andrea, AU - Akin,Mustafa Ali, AU - Basel-Vanagaite,Lina, AU - Benedicenti,Francesco, AU - Chiodin,Elisabetta, AU - El Assy,Osama, AU - Feingold-Zadok,Michal, AU - Guibert,Javier, AU - Kamien,Benjamin, AU - Kasapkara,Ciğdem Seher, AU - Kiliç,Esra, AU - Boduroğlu,Koray, AU - Kurtoglu,Selim, AU - Manzur,Adnan Y, AU - Onal,Eray Esra, AU - Paderi,Enrica, AU - Roche,Carmen Herrero, AU - Tümer,Leyla, AU - Unal,Sezin, AU - Utine,Gülen Eda, AU - Zanda,Giovanni, AU - Zankl,Andreas, AU - Zampino,Giuseppe, AU - Crisponi,Giangiorgio, AU - Crisponi,Laura, AU - Rutsch,Frank, Y1 - 2014/03/06/ PY - 2013/10/23/received PY - 2014/01/24/accepted PY - 2014/2/4/entrez PY - 2014/2/4/pubmed PY - 2015/1/30/medline KW - CISS1 KW - CNTFR pathway KW - CRLF1 KW - Crisponi syndrome SP - 424 EP - 33 JF - Human mutation JO - Hum Mutat VL - 35 IS - 4 N2 - Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) share clinical characteristics, such as dysmorphic features, muscle contractions, scoliosis, and cold-induced sweating, with CS patients showing a severe clinical course in infancy involving hyperthermia associated with death in most cases in the first years of life. To date, 24 distinct CRLF1 mutations have been found either in homozygosity or in compound heterozygosity in CS/CISS1 patients, with the highest prevalence in Sardinia, Turkey, and Spain. By reporting 11 novel CRLF1 mutations, here we expand the mutational spectrum of CRLF1 in the CS/CISS1 syndrome to a total of 35 variants and present an overview of the different molecular and clinical features of all of them. To catalog all the 35 mutations, we created a CRLF1 mutations database, based on the Leiden Open (source) Variation Database (LOVD) system (https://grenada.lumc.nl/LOVD2/mendelian_genes/variants). Overall, the available functional and clinical data support the fact that both syndromes actually represent manifestations of the same autosomal-recessive disorder caused by mutations in the CRLF1 gene. Therefore, we propose to rename the two overlapping entities with the broader term of Crisponi/CISS1 syndrome. SN - 1098-1004 UR - https://www.unboundmedicine.com/medline/citation/24488861/Expanding_the_mutational_spectrum_of_CRLF1_in_Crisponi/CISS1_syndrome_ L2 - https://doi.org/10.1002/humu.22522 DB - PRIME DP - Unbound Medicine ER -