Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome (Articolo in rivista)

Type
Label
  • Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome (Articolo in rivista) (literal)
Anno
  • 2014-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.1002/humu.22522 (literal)
Alternative label
  • Piras, Roberta; Chiappe, Francesca; La Torraca, Ilaria; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel-Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold-Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Cigdem Seher; Kilic, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur, Adnan Y.; Onal, Eray Esra; Paderi, Enrica; Herrero Roche, Carmen; Tumer, Leyla; Unal, Sezin; Utine, Guelen Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank (2014)
    Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome
    in Human mutation
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Piras, Roberta; Chiappe, Francesca; La Torraca, Ilaria; Buers, Insa; Usala, Gianluca; Angius, Andrea; Akin, Mustafa Ali; Basel-Vanagaite, Lina; Benedicenti, Francesco; Chiodin, Elisabetta; El Assy, Osama; Feingold-Zadok, Michal; Guibert, Javier; Kamien, Benjamin; Kasapkara, Cigdem Seher; Kilic, Esra; Boduroglu, Koray; Kurtoglu, Selim; Manzur, Adnan Y.; Onal, Eray Esra; Paderi, Enrica; Herrero Roche, Carmen; Tumer, Leyla; Unal, Sezin; Utine, Guelen Eda; Zanda, Giovanni; Zankl, Andreas; Zampino, Giuseppe; Crisponi, Giangiorgio; Crisponi, Laura; Rutsch, Frank (literal)
Pagina inizio
  • 424 (literal)
Pagina fine
  • 433 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 35 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 10 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 4 (literal)
Note
  • ISI Web of Science (WOS) (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • Consiglio Nazionale delle Ricerche (CNR); University of Cagliari; Catholic University of the Sacred Heart; University of Munster; CRS4 Ctr Adv Studies Res & Dev Sardinia; Erciyes University; Beilinson Med Ctr; Beilinson Med Ctr; Tel Aviv University; Tel Aviv University; Reg Hosp Bolzano; Reg Hosp Bolzano; Al Hada Mil Hosp; Complejo Hosp Navarra; University of Queensland; Gazi University; Hacettepe University; University College London; Gazi University; Osped San Martino; Hosp La Paz; University of Sydney; Children's Medical Research Institute - Australia; Clin St Anna (literal)
Titolo
  • Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome (literal)
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 (). 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. (literal)
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