CRISPONI SYNDROME: A NEW MUTATION IN CRLF 1 GENE ASSOCIATED WITH MODERATE OUTCOME

Uzunalic N., Zenciroglu A., BEKEN S., Piras R., Dilli D., Aydin B., ...Daha Fazla

GENETIC COUNSELING, cilt.24, sa.2, ss.161-166, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Sayı: 2
  • Basım Tarihi: 2013
  • Dergi Adı: GENETIC COUNSELING
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED)
  • Sayfa Sayıları: ss.161-166
  • Anahtar Kelimeler: Hyperthermia, Crisponi syndrome, Mutation
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

Crisponi syndrome: a new mutation in CRLF 1 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 (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.