Expanding the Mutational Spectrum of CRLF1 in Crisponi/CISS1 Syndrome

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 wit...

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Published in:Human mutation Vol. 35; no. 4; pp. 424 - 433
Main Authors: Piras, Roberta, Chiappe, Francesca, Torraca, Ilaria La, 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, Çiğdem Seher, Kılıç, Esra, Boduroğlu, Koray, Kurtoglu, Selim, Manzur, Adnan Y, Onal, Eray Esra, Paderi, Enrica, Roche, Carmen Herrero, Tümer, Leyla, Unal, Sezin, Utine, Gülen Eda, Zanda, Giovanni, Zankl, Andreas, Zampino, Giuseppe, Crisponi, Giangiorgio, Crisponi, Laura, Rutsch, Frank
Format: Journal Article
Language:English
Published: United States Blackwell Publishing Ltd 01.04.2014
John Wiley & Sons, Inc
Subjects:
Child
Child, Preschool
Ciliary Neurotrophic Factor Receptor alpha Subunit - genetics
CISS1
CNTFR pathway
Crisponi syndrome
CRLF1
Databases, Genetic
Death, Sudden - epidemiology
Death, Sudden - pathology
Facies
Female
Fever - epidemiology
Fever - genetics
Fever - pathology
Genetic Variation
Hand Deformities, Congenital - epidemiology
Hand Deformities, Congenital - genetics
Hand Deformities, Congenital - pathology
Humans
Hyperhidrosis
Male
Muscle Contraction - genetics
Mutation
Polymerase Chain Reaction
Receptors, Cytokine - genetics
Trismus - congenital
Trismus - epidemiology
Trismus - genetics
Trismus - pathology
CNTFR pathway
CISS1
Crisponi syndrome
CRLF1
ISSN:1059-7794, 1098-1004, 1098-1004
Online Access:Get full text
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Summary: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. Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 Syndrome Mutations in the CRLF1 gene are responsible for Crisponi/Cold Induced Sweating Syndrome Type 1 (CS/CISS1), a rare autosomal‐recessive disorder characterized by four distinct features, such as hyperthermia and feeding difficulties in the neonatal period, scoliosis, and cold‐induced sweating in the evolutive period. In this study we expanded the mutational spectrum of CRLF1 in the CS/CISS1 syndrome to a total of 35 variants in 56 patients from 47 families. The highest prevalence is found in Sardinia, Turkey and Spain.
Bibliography:ArticleID:HUMU22522
ark:/67375/WNG-CZDKZJHQ-Z
Regione Autonoma della Sardegna, Italy
Associazione Sindrome di Crisponi e Malattie Rare ONLUS
The Interdisciplinary Center for Clinical Research and Innovative Medical Research
istex:631301FF140EC0253229CC5EE2038147CC4C2CB7
Muenster University Medical School, Germany
These authors contributed equally to this work.
Communicated by Segolène Ayme
http://www.sindromedicrisponi.it
and Regione Autonoma della Sardegna, Italy; The Interdisciplinary Center for Clinical Research and Innovative Medical Research, Muenster University Medical School, Germany.
Contract grant sponsors: Associazione Sindrome di Crisponi e Malattie Rare ONLUS
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ISSN:1059-7794
1098-1004
1098-1004
DOI:10.1002/humu.22522