Suspicion of Stuve-Wiedemann Syndrome
Stuve-Wiedemann Syndrome - LIFR
LIFR
Clinical Features
Stuve-Wiedemann Syndrome (STWS) is a severe autosomal recessive inherited skeletal malformation syndrome typically characterized by a bowing of the long bones with cortical thickening and camptodactyly. In addition, affected children suffer respiratory insufficiency, feeding difficulties, malnutrition and life-threatening episodes of hypothermia. The clinical symptoms show some overlap with Schwarz-Jampel Type 2 Syndrome.
Genetic Information
Autosomal recessive inherited mutations in the LIFR gene (Leukemia Inhibitory Factor Receptor gene) located on chromosome 5p13.1 are the cause of STWS. A "frameshift" insertion (c.653_654insT) has been described in many families from the United Arab Emirates.
Diagnostic
Indication
Method
Analysis of the region of the LIFR gene (exon 6) containing the mutation described above (c.653_654insT) using DNA sequencing.
Sample Requirement
2 - 4 ml of EDTA blood
Duration
2 - 3 weeks