The cylindromatosis (CYLD) gene and head and neck tumorigenesis

Verhoeft, Krista Roberta; Ngan, Hoi Lam; Lui, Vivian Wai Yan

doi:10.1186/s41199-016-0012-y

Cancers of the Head & Neck

Table 1 Germline CYLD mutations reported in patients with the CYLD cutaneous syndrome

From: The cylindromatosis (CYLD) gene and head and neck tumorigenesis

Exon	Germline CYLD mutations		No. of families	Reference
Exon	DNA	Protein	No. of families	Reference
5	561-562dupT	Q188Sfs	1	[23]
9	1027dupA	T343Nfs	1	[20]
9	1096_1097delCA	Q366Tfs	2	[20, 81]
9	1112C > A	S371^a	14	[1, 17, 20, 21, 81–85]
9	1135G > T	E379^a	1	[86, 87]
10	1139-1148A > G	splice site mutation	1	[20]
10	1178_1179delCA	T393Rfs	1	[88]
10	1207C > T	Q403 ^a	1	[86, 87]
10	1364_1365delAA	Q455Rfs	1	[89]
10	1392_1393dupT	G465Wfs	1	[23]
10	1455 T > G	Y485^a	1	[90]
10	1455 T > A	Y485^a	2	[1, 20]
10	1462delA	I488Sfs	1	[25]
10	1473C > T	I491I	unavailable	[91]
10	1518 + 2 T > C	splice site mutation	1	[92]
11	1569 T > G	Y523^a	1	[1]
11	1628del2	S543^a	1	[81]
11	1681_1682del	L561Sfs	1	[1]
11	1682 T > A	L561^a	1	[85]
11	1684 + 1G > A	splice site mutation	2	[20, 93]
12	1758insGATA	M587Dfs	2	[20, 82]
12	1758ins2	M587fs	1	[81]
12	1776delA	G593Afs	1	[1]
12	1783C > T	Q595 ^a	1	[94]
12	1787G > A	G596D	1	[95]
12	1821_1826 + 1del-insCT	splice site mutation	1	[96]
12	1826 + 1G > A	splice site mutation	1	[97]
12	1826 + 1G > T	splice site mutation	2	[20, 21]
13	1830-1831insA	F611Ifs	1	[1]
13	1843delT	S615Lfs	1	[98]
13	1859_1860delTG	V620fs	2	[1, 81]
13	1863insA	L622Tfs	1	[81]
13	1893_1906delATATTATAGTGAAA	E631Dfs	1	[23]
13	1925delC	T642Kfs	1	[108]
13	1935dupT	N646^a	1	[1]
14	1950-2A > T	splice site mutation	1	[23]
14	1950_1953-1delGATA	splice site mutation	1	[23]
14	1961 T > A	V654E	2	[26]
14	2012-2021del10	A671Dfs	1	[99]
14	2032G > T	E678 ^a	unavailable	[91]
15	2041 + 1G > T	splice site	1	[100]
15	2042-1G > C	splice site	1	[109]
15	2042A > G	D681G	1	[86, 87]
15	2065_2066delCT	L689Vfs	1	[85]
15	2068_2069delTTinsC	F690Lfs	1	[85]
15	2070delT	H691Ifs	1	[110]
15	2081delT	L694^a	1	[86, 87]
15	2104delA	I702^a	2	[20, 90]
15	2104_2105insA	I702Nfs	1	[24]
15	2108G > A	R703K	1	[111]
15	2108G > C	R703T	2	[20, 90]
16	2116_2117insATTAG	G706Dfs	1	[112]
16	2119C > T	Q707^a	3	[20, 90]
16	2128C > T	Q710 ^a	2	[25, 108]
16	2138delA	Y713Sfs	1	[1]
16	2146C > A	Q716K	1	[85]
16	2154insT	M719Yfs	1	[81]
16	2155dupA	M719Nfs	1	[20]
16	2170_2172insTC	K724Ifs	3	[20, 90]
16	2172delA	V725Lfs	3	[1, 15, 81]
16	2214delT	F738Lfs	1	[81]
16	2240A > G	E747G	2	[81, 101]
16	2240_2241delAG	E747fs	1	[102]
17	2252delG	C751Ffs	1	[103]
17	2255delT	L752Rfs	1	[83]
17	2259dupT	I754Yfs	2	[20, 21]
17	2272C > T	R758^a	10	[1, 18, 20, 21, 85, 104, 113]
17	2288_2289delTT	F763^a	1	[20]
17	2290_2294del	K764Ifs	1	[81]
17	2291_2295delAACTA	K764Ifs	2	[20]
17	2299A > T	K767^a	5	[20, 83, 90]
17	2305_2306insC	I769Tfs	1	[1]
17	2305delA	I769Ffs	4	[82]
17	2330_2331delTA	I777Nfs	2	[20, 105]
17	2339 T > G	L780^a	2	[81, 82]
18	2350 + 5G > A	Splice Site Mutation	2	[1, 85]
18	2355_2358delCAGA	R786Sfs	1	[106]
18	2409C > G	Y803^a	1	[89]
18	2449delT	C817Vfs	1	[114]
18	2460delC	C820 ^a	2	[1, 11]
18	2465insAACA	T822Tfs	1	[107]
18	2467C > T	Q823^a	1	[1]
18	2469 + 26G > A	splice site mutation	1	[99]
18	2469 + 1G > A	splice site mutation	2	[1, 11]
19	2546G > A	W849^a	1	[86, 87]
19	2552_2553insA	H851Qfs	1	[115]
19	2569C > T	Q857^a	1	[1]
19	2602G > T	E868^a	2	[1, 116]
19	2613C > G	H871Q^#	2	[91, 117]
19	2641delG	D881Tfs	1	[20]
19	2655G > A	W885 ^a	1	[85]
19	2662_2664delTTT	F888del	1	[85]
19	2666A > T	D889V	1	[96]
20	2687G > C	G896A	1	[118]
20	2709dupT	P904Sfs	1	[119]
20	2711C > T	P904L	1	[83]
20	2712delT	Q905Kfs	1	[96]
20	2713C > T	Q905^a	1	[20]
20	2729dupC	E911Rfs	3	[20, 90]
20	2806C > T	R936^a	13	[1, 19, 20, 22, 26, 81, 82, 91, 120]
20	2814_2817delGCTT	L939Vfs	3	[20, 90]
20	2822A > T	D941V	1	[25]
-	2686 + 60_^a3340del5632^b	germline deletion	1	[85]
-	34111_^a297858del378779^c	germline deletion	1	[121]
-	914-6398_1769del13642ins20^d	germline deletion	1	[121]

A total of 107 germline mutations of CYLD have been reported in the literature thus far. This table summarizes the reported DNA changes, protein changes, frequency and original report of 105 germline CYLD mutations. Two additional germline mutations of CYLD were originally reported as 1862 + 2 T > G (splice site mutation) [102] and 2317G > A [122], however, the protein change cannot be interpreted by sequence analysis and are therefore not included in this table. Based on the nucleotide sequences provided by the original articles, we predicted the mutational changes on the CYLD protein using the Integrated Genomic Viewer (IGV) software (Broad Institute, USA) as italicized- based on the reference GenBank number NM_015247 for CYLD. Abbreviations: del deletion, ins insertion, dup duplicate, ^a = introduction of stop codon. Notes: ^bLarge deletion (~5.3kB) in the catalytic domain UCH region of CYLD. ^cLarge deletion (~13.6kB) from intron 6 to exon 12 affecting the 3rd CAP domain and beginning of the UCH domain, additionally, a 20 bp insertion was detected. ^dLarge deletion (0.4 MB) of entire CYLD gene and some surrounding regions

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ISSN: 2059-7347

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