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This gene encodes a member of the cytokine type I receptor family. The protein forms a secreted complex with cardiotrophin-like cytokine factor 1 and acts on cells expressing ciliary neurotrophic factor receptors. The complex can promote survival of neuronal cells.[6]
Mutations in this gene are associated with two conditions, both rare:
Illustration of an infant with facial trismus, a common signal of handling or crying in Cold-induced sweating syndrome[7]Cold-induced sweating syndrome, characterized by profuse hyperhidrosis in cold environmental temperature and characteristic craniofacial and skeletal features)[8][9]
Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions, abnormal function of the autonomic nervous system and craniofacial and skeletal manifestations such as thick and arched eyebrows, a short nose with anteverted nostrils, full cheeks, an inverted upper lip and a small mouth.[8]
It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.[8]
Other characteristic features in CRLF1 mutation include marfanoid habitus with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia and prognathism.[8]
1234Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, etal. (March 2010). "Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation". American Journal of Medical Genetics. Part A. 152A (3): 764–769. doi:10.1002/ajmg.a.33315. PMID20186812. S2CID19694775.
