Crisponi syndrome: A new mutation in a Saudi family

Abstract

Crisponi syndrome is a rare autosomal recessive disorder caused by mutation in the Cytokine Receptor-Like Factor1 (CRLF1) gene. The cardinal features of this syndrome, which are always evident at birth, consist of muscular contractions of the facial muscles in response to tactile stimuli with trismus simulating tetanic spasm, abundant salivation, major feeding and respiratory difficulties, characteristics dysmorphic features, camptodactyly and hyperthermia. In infancy and childhood they develop progressing kyphoscoliosis and developmental delay. Molecular analysis performed on DNA of our patient (and both parents) showed evidence of a new pathogenetic homozygous mutation never described before in the literature. Our case is one of 9 new mutations found in addition to 29 already described mutations, thus expanding the mutational spectrum of CRLF1 in Crisponi syndrome.