Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

Roberta Piras, Francesca Chiappe, Ilaria La Torraca, Insa Buers, Gianluca Usala, Andrea Angius, Mustafa Ali Akin, Lina Basel-Vanagaite, Francesco Benedicenti, Elisabetta Chiodin, Osama El Assy, Michal Feingold-Zadok, Javier Guibert, Benjamin Kamien, Çiǧdem Seher Kasapkara, Esra Kiliç, Koray Boduroǧlu, Selim Kurtoglu, Adnan Y. Manzur, Eray Esra OnalEnrica Paderi, Carmen Herrero Roche, Leyla Tümer, Sezin Unal, Gülen Eda Utine, Giovanni Zanda, Andreas Zankl, Giuseppe Zampino, Giangiorgio Crisponi, Laura Crisponi*, Frank Rutsch

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)424-433
Number of pages10
JournalHuman Mutation
Volume35
Issue number4
DOIs
StatePublished - Apr 2014

Keywords

  • CISS1
  • CNTFR pathway
  • CRLF1
  • Crisponi syndrome

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