Document Detail

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.
MedLine Citation:
PMID:  17436251     Owner:  NLM     Status:  MEDLINE    
Crisponi syndrome is a rare autosomal recessive disorder characterized by congenital muscular contractions of facial muscles, with trismus in response to stimuli, dysmorphic features, bilateral camptodactyly, major feeding and respiratory difficulties, and access of hyperthermia leading to death in the first months of life. The overlap with Stuve-Wiedemann syndrome (SWS) is striking, but the two conditions differ in that congenital lower limb bowing is absent in Crisponi syndrome, whereas it is a cardinal feature of SWS. We report here the exclusion of the leukemia inhibitory factor receptor gene in Crisponi syndrome and the identification of homozygote or compound heterozygote cytokine receptor-like factor 1 (CRLF1) mutations in four children from three unrelated families. The four mutations were located in the immunoglobulin-like and type III fibronectin domains, and three of them predicted premature termination of translation. Using real-time quantitative polymerase chain reaction, we found a significant decrease in CRLF1 mRNA expression in patient fibroblasts, which is suggestive of a mutation-mediated decay of the abnormal transcript. CRLF1 forms a heterodimer complex with cardiotrophin-like cytokine factor 1, and this heterodimer competes with ciliary neurotrophic factor for binding to the ciliary neurotrophic factor receptor (CNTFR) complex. The identification of CRLF1 mutations in Crisponi syndrome supports the key role of the CNTFR pathway in the function of the autonomic nervous system.
N Dagoneau; S Bellais; P Blanchet; P Sarda; L I Al-Gazali; M Di Rocco; C Huber; F Djouadi; C Le Goff; A Munnich; V Cormier-Daire
Publication Detail:
Type:  Case Reports; Journal Article     Date:  2007-03-13
Journal Detail:
Title:  American journal of human genetics     Volume:  80     ISSN:  0002-9297     ISO Abbreviation:  Am. J. Hum. Genet.     Publication Date:  2007 May 
Date Detail:
Created Date:  2007-04-16     Completed Date:  2007-06-11     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  0370475     Medline TA:  Am J Hum Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  966-70     Citation Subset:  IM    
Department of Genetics and INSERM U781, Université Paris-Descartes, Paris, France.
Data Bank Information
Bank Name/Acc. No.:
OMIM/601378; RefSeq/NM_002310;  NM_004750;  NM_013246;  NP_002301;  NP_004741;  NP_037378;  NP_671693;  NP_786943
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MeSH Terms
Abnormalities, Multiple / genetics*
Base Sequence
Cold Temperature / adverse effects
Contracture / congenital,  genetics
Genes, Recessive
Infant, Newborn
Muscle Contraction / genetics
RNA, Messenger / genetics,  metabolism
Receptors, Cytokine / genetics*
Signal Transduction
Sweating / genetics*
Reg. No./Substance:
0/RNA, Messenger; 0/Receptors, Cytokine

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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