The CYLD p.R758X worldwide recurrent nonsense mutation detected in patients with multiple familial trichoepithelioma type 1, Brooke-Spiegler syndrome and familial cylindromatosis represents a mutational hotspot in the gene

Table 2 Summary of the geographical location and clinical manifestation of the recurrent p.R758X CYLD mutation

CYLD cDNA	CYLD protein	Detected in patients with	Nationality	References
c.2272C > T	p.R758X	FC	Caucasian American, Dutch, Japanese	[3, 9, 13]
		BSS	Austrian, South African, Czech, Chinese	[10–12]
		MFT1	Austrian, Spanish	[10, 14], present study

ISSN: 2730-6844