title: Novel CRLF1 gene mutation in a newborn infant diagnosed with Crisponi syndrome.
abstract: Crisponi syndrome is an infrequently described disorder with autosomal recessive trait. It is characterized by extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Muscle contractions attenuate during rest or when the infant calms down. As a recently described new disease, Crisponi syndrome may be confused with epileptic manifestations. Most of the patients die in the first months of life due to hyperthermia and feeding problems. Recently, it has been demonstrated that mutations of the CRLF1 gene 'cytokine receptor-like factor 1' are associated with Crisponi syndrome. Here, we present a newborn diagnosed with Crisponi syndrome and report a novel homozygous CFRL1 gene mutation.
authors.affiliation: Department of Neonatology, Dr. Sami Ulus Maternity and Children Training and Research Hospital, Ankara, Turkey.
authors.forename: Nilay
authors.initials: N
authors.lastname: Hakan
authors.forename: Fatma Tuba
authors.initials: FT
authors.lastname: Eminoglu
authors.forename: Mustafa
authors.initials: M
authors.lastname: Aydin
authors.forename: Aysegul
authors.initials: A
authors.lastname: Zenciroglu
authors.forename: Nazmiye Nilgun
authors.initials: NN
authors.lastname: Karadag
authors.forename: Arzu
authors.initials: A
authors.lastname: Dursun
authors.forename: Nurullah
authors.initials: N
authors.lastname: Okumus
authors.forename: Serdar
authors.initials: S
authors.lastname: Ceylaner
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D003645:Death, Sudden; D005091:Exons; D019066:Facies; D005260:Female; D005334:Fever / Q000175:diagnosis / Q000235:genetics*; D005838:Genotype; D006228:Hand Deformities, Congenital / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D006945:Hyperhidrosis; D007223:Infant; D007231:Infant, Newborn; D009119:Muscle Contraction / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D018121:Receptors, Cytokine / Q000235:genetics*; D014313:Trismus / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics
chemical_list: D018121:Receptors, Cytokine; C113554:cytokine-like factor-1