TY - JOUR
T1 - Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.
AU - Herholz, J
AU - Meloni, A
AU - Marongiu, M
AU - Chiappe, F
AU - Deiana, M
AU - Herrero, Cr
AU - Zampino, Giuseppe
AU - Hamamy, H
AU - Zalloum, Y
AU - Waaler, Pe
AU - Crisponi, G
AU - Crisponi, L
AU - Rutsch, F.
PY - 2011
Y1 - 2011
N2 - 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.
AB - 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.
KW - CRLF1-associeated
KW - CRLF1-associeated
UR - https://publicatt.unicatt.it/handle/10807/4843
UR - https://www.scopus.com/inward/citedby.uri?partnerID=HzOxMe3b&scp=79955747608&origin=inward
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=79955747608&origin=inward
U2 - 10.1038/ejhg.2010.253
DO - 10.1038/ejhg.2010.253
M3 - Article
SN - 1018-4813
VL - 2011
SP - 525
EP - 533
JO - European Journal of Human Genetics
JF - European Journal of Human Genetics
IS - Maggio
ER -