title: Homozygous mutation of CRLF-1 gene in a Turkish newborn with Crisponi syndrome.
abstract: Crisponi syndrome is a recently described rare autosomal recessive disorder. The main clinical features of the syndrome are neonatal onset of episodic contractions of the facial muscles with trismus and abundant salivation resembling a tetanic spasm. Herein, we report a case of 3-day-old male neonate presenting with trismus, abundant salivation, feeding difficulties, camptodactyly, and hyperthermia, which are consistent with the diagnostic criteria of Crisponi syndrome. The parents of the patient were consanguineous, supporting autosomal recessive inheritance. Molecular analysis revealed a homozygous mutation in cytokine receptor-like factor-1 gene in the patient.
authors.affiliation: Department of Neonatology, Tepecik Training and Research Hospital Department of Medical Genetics, Ege University Faculty of Medicine, Izmir, Turkey.
authors.forename: Hese
authors.initials: H
authors.lastname: Cosar
authors.forename: Zelal
authors.initials: Z
authors.lastname: Kahramaner
authors.forename: Aydin
authors.initials: A
authors.lastname: Erdemir
authors.forename: Ebru
authors.initials: E
authors.lastname: Turkoglu
authors.forename: Ali
authors.initials: A
authors.lastname: Kanik
authors.forename: Sumer
authors.initials: S
authors.lastname: Sutcuoglu
authors.forename: Hüseyin
authors.initials: H
authors.lastname: Onay
authors.forename: Asude
authors.initials: A
authors.lastname: Alpman
authors.forename: Ferda
authors.initials: F
authors.lastname: Ozkinay
authors.forename: Esra Arun
authors.initials: EA
authors.lastname: Ozer
mesh_terms: D003645:Death, Sudden; D005091:Exons; D019066:Facies; D005334:Fever / Q000175:diagnosis / Q000235:genetics*; D016368:Frameshift Mutation / Q000235:genetics*; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D006945:Hyperhidrosis; D007231:Infant, Newborn; D008297:Male; D009119:Muscle Contraction / Q000235:genetics; D010641:Phenotype; D018121:Receptors, Cytokine / Q000235:genetics*; D014313:Trismus / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D014421:Turkey
chemical_list: D018121:Receptors, Cytokine; C113554:cytokine-like factor-1