Stüve-Wiedemann syndrome: LIFR and associated cytokines in clinical course and etiology

Table 2 Stüve-Wiedemann syndrome (STWS) with the corresponding molecular etiology

STWS phenotype	Cytokine	Reference
Smooth tongue	LIF, CNTF	[7, 77]
Osteopenia	LIF, OSM, CT-1	[58, 68, 89, 99]
Cardiovascular malfunctions	LIF, CT-1	[79–81, 94, 99]
Paradoxical sweating	CLCF1/CRLF1	[9, 13, 106]
Dysphagia	CT-1?, OSM?, CLCF1/CRLF1?	[20, 70, 107, 108]
Respiratory distress	CT-1?, OSM?	[82]
Short stature	CNTF	[58, 70, 89, 100]

Each of the cytokines signal through the leukemia inhibitory factor receptor (LIFR). In STWS, the LIFR gene is mutated, and due to the mutation, cytokine signaling is blocked, and the corresponding manifestations of STWS occur. Only symptoms for which the mechanism has been explored are listed. Those followed by a question mark are still under considerable speculation. LIF: leukemia inhibitory factor; CNTF: ciliary neurotrophic factor; OSM: oncostatin-M; CT-1: cardiotrophin-1; CLCF1: cardiotrophin-like cytokine factor-1; CRLF1: cytokine receptor-like factor-1.

ISSN: 1750-1172