Figure 1

Image of STWS patient at 10 months of age. Facial features and contracture of fingers are evident. Patient carries two mutations in the LIFR gene; 1) a duplication of 22 nucleotides within exon 4, causing a frameshift predicted to result in a premature stop codon following five unique amino acids, and 2) a deletion of nine nucleotides within exon 12, resulting in the deletion of three amino acids at the protein level. Both mutations occur within the region of the gene encoding the extracellular domain. The mutation resulting in the premature stop codon is anticipated to result in mRNA instability, and it is therefore likely to result in a null mutation. These mutations are unique, having not been previously described. Photograph printed with permission from patient, now age 23.