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

A report is presented on 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 identification of CRLF 1 mutations in Crisponi syndrome supports the key role of the CNTFR pathway in the function of the autonomic nervous system.