Crisponi syndrome: A new mutation in CRLF 1 gene associated with moderate outcome


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Uzunalic N., Zenciroglu A., Beken S., Piras R., Dilli D., Aydın B., ...More

Genetic Counseling, vol.24, no.2, pp.161-166, 2013 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 24 Issue: 2
  • Publication Date: 2013
  • Journal Name: Genetic Counseling
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.161-166
  • Keywords: Hyperthermia, Crisponi syndrome, Mutation
  • Lokman Hekim University Affiliated: No

Abstract

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.