Crisponi syndrome: a new mutation in CRLF1 gene associated with moderate outcome

Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Recently, it has been demonstrated that CRLF1 (cytoki...

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Bibliographic Details
Published in:	Genetic counseling Vol. 24; no. 2; p. 161
Main Authors:	Uzunalic, N, Zenciroglu, A, Beken, S, Piras, R, Dilli, D, Aydin, B, Chiappe, F, Okumus, N, Crisponi, L
Format:	Journal Article
Language:	English
Published:	Switzerland 2013
Subjects:	Death, Sudden Facies Fatal Outcome Female Fever - genetics Genotype Hand Deformities, Congenital - genetics Humans Hyperhidrosis Infant Muscle Contraction - genetics Mutation - genetics Phenotype Receptors, Cytokine - genetics Trismus - congenital Trismus - genetics
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Summary:	Crisponi syndrome (CS) is a rare, autosomal recessive disorder, characterized by hyperthermia, extensive muscular contractions in the face after even minimal stimuli or crying, hypertonia, opisthotonus, camptodactyly, and typical facial features. Recently, it has been demonstrated that CRLF1 (cytokine receptor-like factor 1) gene mutation is associated with CS. Here we report a case of CS with a new mutation in the CRLF1 gene associated with moderate clinical phenotype.
ISSN:	1015-8146