Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Giuseppe Zampino, Jana Herholz, Alessandra Meloni, Mara Marongiu, Francesca Chiappe, Manila Deiana, Carmen Roche Herrero, Hanan Hamamy, Yusra Zalloum, Per Erik Waaler, Giangiorgio Crisponi, Laura Crisponi, Frank Rutsch

Risultato della ricerca: Contributo in rivistaArticolo in rivista

26 Citazioni (Scopus)

Abstract

Crisponi syndrome (CS) and cold-induced sweating syndrome type 1 (CISS1) are disorders caused by mutations in CRLF1. The two syndromes 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 evaluate a potential genotype/phenotype correlation and whether CS and CISS1 represent two allelic diseases or manifestations at different ages of the same disorder, we carried out a detailed clinical analysis of 19 patients carrying mutations in CRLF1. We studied the functional significance of the mutations found in CRLF1, providing evidence that phenotypic severity of the two disorders mainly depends on altered kinetics of secretion of the mutated CRLF1 protein. On the basis of these findings, we believe that the two syndromes, CS and CISS1, represent manifestations of the same disorder, with different degrees of severity. We suggest renaming the two genetic entities CS and CISS1 with the broader term of Sohar-Crisponi syndrome.
Lingua originaleEnglish
pagine (da-a)525-533
Numero di pagine9
RivistaEuropean Journal of Human Genetics
Volume2011
Stato di pubblicazionePubblicato - 2011

Keywords

  • CRLF1-associeated

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