title: A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.
abstract: Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disorder characterized by profuse sweating at cold environmental temperatures, facial dysmorphism and skeletal features. The infantile presentation of CISS, referred to as Crisponi syndrome (CS), is characterized by facial muscular contractures in response to slight tactile stimuli or during crying, by life-threatening feeding difficulties caused by suck and swallow inabilities, and by intermittent hyperthermia. High febrile crises can lead to death within the first months of life. In preadolescence, surviving patients develop kyphoscoliosis and abnormal sweating. CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 in more than 90 percent of patients (CISS1) and by mutations in CLCF1 in the remaining patients (CISS2). It is now well demonstrated that all patients with an infantile-onset CS will develop CISS, confirming that CS and CISS are not "allelic disorders" but the same clinical entity described at different ages of affected patients. Here we report on a Turkish patient with a phenotype consistent with CS/CISS1 and a nonsense homozygous mutation (c.829C>T, p.R277X) in the CRLF1 gene. This mutation has already been reported in another Turkish patient with CS/CISS1.
authors.affiliation: Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium. Electronic address: stephanie.moortgat@ipg.be.
authors.forename: Stephanie
authors.initials: S
authors.lastname: Moortgat
authors.affiliation: Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium.
authors.forename: Valerie
authors.initials: V
authors.lastname: Benoit
authors.affiliation: Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium; Département de Neuropédiatrie, Clinique Sainte-Elisabeth, Namur, Belgium.
authors.forename: Marie
authors.initials: M
authors.lastname: Deprez
authors.affiliation: Département de Néonatologie, Grand Hôpital de Charleroi, Charleroi, Belgium.
authors.forename: Anne
authors.initials: A
authors.lastname: Charon
authors.affiliation: Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Charleroi, Gosselies, Belgium.
authors.forename: Isabelle
authors.initials: I
authors.lastname: Maystadt
mesh_terms: D001483:Base Sequence; D003241:Consanguinity; D004252:DNA Mutational Analysis; D003645:Death, Sudden; D019066:Facies; D005334:Fever / Q000175:diagnosis* / Q000235:genetics; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D006228:Hand Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics; D006720:Homozygote; D006801:Humans; D006945:Hyperhidrosis; D007223:Infant; D008297:Male; D025202:Molecular Diagnostic Techniques; D009119:Muscle Contraction / Q000235:genetics; D020125:Mutation, Missense; D018121:Receptors, Cytokine / Q000235:genetics*; D014313:Trismus / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
chemical_list: D018121:Receptors, Cytokine; C113554:cytokine-like factor-1
keywords: CRLF1 gene; Camptodactyly; Cold-induced sweating syndrome type 1; Crisponi syndrome; Facial dysmorphism; Hyperthermia; Muscle contractions