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CRLF1

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(Redirected from Crisponi syndrome)

CRLF1
Identifiers
AliasesCRLF1, CISS, CISS1, CLF, CLF-1, NR6, zcytor5, cytokine receptor like factor 1
External IDsOMIM: 604237; MGI: 1340030; HomoloGene: 3489; GeneCards: CRLF1; OMA:CRLF1 - orthologs
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_004750

RefSeq (protein)

NP_004741

Location (UCSC)Chr 19: 18.57 – 18.61 MbChr 8: 70.95 – 70.96 Mb
PubMed search[3][4]
Wikidata
View/Edit HumanView/Edit Mouse

Cytokine receptor-like factor 1 is a protein that in humans is encoded by the CRLF1 gene.[5][6]

Function

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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]

Clinical significance

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Mutations in this gene are associated with two conditions, both rare:

  • Cold-induced sweating syndrome, characterized by profuse hyperhidrosis in cold environmental temperature and characteristic craniofacial and skeletal features)[7][8]
  • 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.[7]

It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.[7] 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.[7]

References

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  1. ^ a b c GRCh38: Ensembl release 89: ENSG00000006016Ensembl, May 2017
  2. ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000007888Ensembl, May 2017
  3. ^ "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. ^ "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. ^ Elson GC, Graber P, Losberger C, Herren S, Gretener D, Menoud LN, Wells TN, Kosco-Vilbois MH, Gauchat JF (Aug 1998). "Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family". J Immunol. 161 (3): 1371–9. doi:10.4049/jimmunol.161.3.1371. PMID 9686600.
  6. ^ a b "Entrez Gene: CRLF1 cytokine receptor-like factor 1".
  7. ^ a b c d Yamazaki M, Kosho T, Kawachi S, Mikoshiba M, Takahashi J, Sano R, Oka K, Yoshida K, Watanabe T, Kato H, Komatsu M, Kawamura R, Wakui K, Knappskog PM, Boman H, Fukushima Y (March 2010). "Cold-induced sweating syndrome with neonatal features of Crisponi syndrome: longitudinal observation of a patient homozygous for a CRLF1 mutation". Am. J. Med. Genet. A. 152A (3): 764–9. doi:10.1002/ajmg.a.33315. PMID 20186812. S2CID 19694775.
  8. ^ Rousseau F, Gauchat JF, McLeod JG, Chevalier S, Guillet C, Guilhot F, Cognet I, Froger J, Hahn AF, Knappskog PM, Gascan H, Boman H (June 2006). "Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient". Proc. Natl. Acad. Sci. U.S.A. 103 (26): 10068–73. Bibcode:2006PNAS..10310068R. doi:10.1073/pnas.0509598103. PMC 1502507. PMID 16782820.

Further reading

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This article incorporates text from the United States National Library of Medicine, which is in the public domain.