Cytokine receptor-like factor 1 is a
protein
Proteins are large biomolecules and macromolecules that comprise one or more long chains of amino acid residue (biochemistry), residues. Proteins perform a vast array of functions within organisms, including Enzyme catalysis, catalysing metab ...
that in humans is encoded by the ''CRLF1''
gene
In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that is transcribed to produce a functional RNA. There are two types of molecular genes: protei ...
.
Function
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.
Clinical significance
Mutations in this gene are associated with two conditions, both
rare:
*Cold-induced sweating syndrome, characterized by profuse
hyperhidrosis
Hyperhidrosis is a medical condition in which a person exhibits excessive perspiration, sweating, more than is required for the Thermoregulation, regulation of body temperature. Although it is primarily a physical burden, hyperhidrosis can deterio ...
in cold environmental temperature and characteristic craniofacial and skeletal features)
*Crisponi syndrome (CS), characterized by neonatal-onset paroxysmal muscular contractions, abnormal function of the
autonomic nervous system
The autonomic nervous system (ANS), sometimes called the visceral nervous system and formerly the vegetative nervous system, is a division of the nervous system that operates viscera, internal organs, smooth muscle and glands. The autonomic nervo ...
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.
[
It is unknown whether the two conditions are distinct clinical entities or a single clinical entity with variable expressions.][
Other characteristic features in CRLF1 mutation include ]marfanoid habitus
Marfanoid (or Marfanoid habitus) is a constellation of signs resembling those of Marfan syndrome, including long limbs, with an arm span that is at least 1.03 of the height of the individual, and a crowded oral maxilla, sometimes with a high arch i ...
with progressive kyphoscoliosis and craniofacial characteristics including dolichocephaly
Dolichocephaly (derived from the Ancient Greek δολιχός 'long' and κεφαλή 'head') is a term used to describe a head that is longer than average relative to its width. In humans, scaphocephaly is a form of dolichocephaly.
Dolichoceph ...
, a slender face with poor expression, a nose with hypoplastic nares, malar hypoplasia and prognathism
Prognathism is a positional relationship of the mandible or maxilla to the skeletal base where either of the jaws protrudes beyond a predetermined imaginary line in the coronal plane of the skull.
In the case of ''mandibular'' prognathism (nev ...
.[
]
References
Further reading
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External links
* Hahn, Angelika F. Knappskog, Per Morten (March 3, 2011 pdated August 12, 2021
"Cold-Induced Sweating Syndrome Including Crisponi Syndrome"
''GeneReviews
''GeneReviews'' is an online database containing standardized Peer review, peer-reviewed articles that describe specific heritable diseases. It was established in 1997 as ''GeneClinics'' by Roberta A Pagon (University of Washington) with funding f ...
''.
"Search: '601559 193700 601680 272430 601378 604237 607672 610313 272430 601378 604237 607672 610313 (Search in: MIM number)
Online Mendelian Inheritance in Man
Online Mendelian Inheritance in Man (OMIM) is a continuously updated catalog of human genes and genetic disorders and traits, with a particular focus on the gene-phenotype relationship. , approximately 9,000 of the over 25,000 entries in OMIM ...
entries about cold-induced sweating syndrome including Crisponi syndrome.
*
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