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Article

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

American journal of human genetics - 1 May 2007

Dagoneau N, Bellais S, Blanchet P, Sarda P, Al-Gazali L I, Di Rocco M, Huber C, Djouadi F, Le Goff C, Munnich A, Cormier-Daire V

Abstract excerpt

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...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 17436251
DOI: 10.1086/513608
PMCID: PMC1852726

Genes

CRLF1
CNTFR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.PMID 17436251Read ↗

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.Semantic proximity Read ↗

CRLF1 and CLCF1 in Development, Health and DiseaseSemantic proximity Read ↗

Novel Mutations in CRLF1: Case Reports with Crisponi Syndrome.Semantic proximity Read ↗

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.Semantic proximity Read ↗

Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.Semantic proximity Read ↗

Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.Semantic proximity Read ↗

Cold-induced sweating syndrome is caused by mutations in the CRLF1 gene.Semantic proximity Read ↗

Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.Semantic proximity Read ↗

Cold-induced sweating syndrome type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.Semantic proximity Read ↗

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.Semantic proximity Read ↗

Bi-allelic Mutations in KLHL7 Cause a Crisponi/CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa.Semantic proximity Read ↗

Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome.Semantic proximity Read ↗

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