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 1 Haplotype analysis of Spanish, Dutch and Austrian patients carrying the same recurrent nonsense mutation

Nationality		Spanish			Dutch		Austrian
		II/1	II/2	III/1
		Healthy	Symptomatic	Symptomatic	Symptomatic	Symptomatic	Symptomatic
Polymorphism ID	Frequent allele
rs35072258	TC/-	TCTC	TCTC	TCTC	TCTC	TCTC	TCTC
rs11866167	C/A	CC	CC	CC	CC	CC	CC
rs111543527	T/C	TT	TT	TT	TT	TT	TT
rs72796392	T/C	TT	TT	TT	TT	TT	TT
rs141129479	A/G	AA	AA	AA	AA	AA	AA
rs146946436	A/G	AA	AA	AA	AA	AA	AA
rs185111122	T/C	TT	TT	TT	TT	TT	TT
rs149201712	AC/-	ACAC	ACAC	ACAC	ACAC	ACAC	ACAC
rs368656359	G/A	GG	GG	GG	GG	GG	GG
rs137990687	G/A	GG	GG	GG	GG	GG	GG
rs201757487	G/-	GG	GG	GG	GG	GG	GG
rs10451132	G/T	GG	GG	GG	GG	GG	GT
rs370702435	A/G	AA	AA	AA	AA	AA	AA
rs121908388	C/T	CC	CT	CT	CT	CT	CT
rs199912760	G/A	GG	GG	GG	GG	GG	GG
rs375106322	G/A	GG	GG	GG	GG	GG	GG
r201860550	G/T	GG	GG	GG	GG	GG	GG
rs149502055	C/T	CC	CC	CC	CC	CC	CC
rs376795685	G/A	GG	GG	GG	GG	GG	GG
rs144013604	A/G	AA	AA	AA	AA	AA	AA
rs75157714	G/A	GG	GG	GG	GG	GG	GG
rs201233994	AT/-	AT	AT	AT	AT	AT	AT
rs200973965	ATAC/-	ATAC	ATAC	ATAC	ATAC	ATAC	ATAC
rs77528321	T/C	TT	TT	TT	TT	TT	TT
rs146702654	T/-	TT	TT	TT	TT	TT	TT
rs6145827	ACACAC/-	ACACAC ACACAC	ACACAC ACACAC	ACACAC ACACAC	ACACAC ACACAC	ACACAC ACACAC	ACACAC ACACAC
rs3064638	ACACAC/-	ACACAC ACACAC	ACACAC ACACAC	ACACAC ACACAC	ACACAC ACACAC	ACACAC ACACAC	- -
rs73584492	A/G	AA	AA	AA	AA	AA	AA
rs190892314	A/G	AA	AA	AA	AA	AA	AA
rs200678983	C/T	CC	CC	CC	CC	CC	CC
rs76797023	A/T	AA	AA	AA	AA	AA	AA
rs77678929	T/A	TT	TT	TT	TT	TT	TT
rs376799359	A/T	AA	AA	AA	AA	AA	AA
rs201103123	C/T	CC	CC	CC	CC	CC	CC

ISSN: 2730-6844