Stuve Wiedemann syndrome is a genetic disorder caused by changes in both copies of the LIFR gene. These changes are usually each inherited from each parent.
A gene is an instruction to assemble amino acids, these, in turn, in the correct order serve to produce a protein. The LIFR gene is a sequence of letters, a genetic mutation/variant is a change of a single letter for another, changing the amino acid. In the typical Stuve Wiedemann syndrome, it has been shown that the change of amino acid generates a stoppage in the formation of protein pieces.
The LIFR gene is thought to be important for cell signalling in a special pathway called JAK/STAT, but the exact mechanisms that produce the different manifestations remain unclear and as yet unidentified.
It is important to mention that there is no clear correlations between a specific change and the severity of the disease. This implies that two patients with the same gene variants could have different prognoses.
What is needed to confirm the diagnosis of Stuve Wiedemann syndrome?
The diagnosis of Stuve Wiedemann syndrome is confirmed by the detection of two disease-causing changes in the LIFR gene in a genetic test performed in an affected individual.
There are two possible strategies to identify these LIFR disease-causing changes:
• If the individual’s characteristics raise the Stuve Wiedemann syndrome suspicion, the DNA direct sequence of the LIFR gene will be enough.
• If the individual’s characteristics are not sufficient to raise the suspicion of Stuve Wiedemann syndrome, the DNA sequence of multiple genes, including LIFR, will be analysed using a multi-gene panel or whole exome sequencing.
Both genetic tests can be arranged by a clinical geneticist and involve the collection of a sample of blood from the affected individual (and eventually the parents). Comparing the patient’s DNA with the parents’ may facilitate the detection of healthy carriers (healthy parents with only one LIFR disease-causing).
LIFR