In the January 2010 issue of Dermatologic Clinics (Volume 28, Issue 1), an error appears in the article “Plectin Gene Defects Lead to Various Forms of Epidermolysis Bullosa Simplex” by Günther A. Rezniczek, Gernot Walko, and Gerhard Wiche. On pages 36 and 37, an unconventional mutation numbering scheme is used in Table 1 and in the text. The authors have prepared a revised version of the table where mutations are named according to the current guidelines for mutation nomenclature ( http://www.hgvs.org/mutnomen/ ). The new table lists the known plectin mutations, giving their designations on both the cDNA and protein levels. It contains several mutations previously not listed (corresponding references have been added). Additionally, please note that the mutations 1537ins36, 2674del9, and 13480ins16 mentioned in the text (page 36, subsection “Plectin gene mutations and epidermolysis bullosa simplex”) should read as 1530_1531ins36, 2677_2685del, and 13459_13474dup, respectively.

Table 1

(Revised) Plectin mutations reported in the literature

Mutation (cDNA Level) a	Mutation (Protein Level) a	Other Designations Used in Some Publications c	Exon d	Genotype e	References
EBS-MD
954_956dupGCT	L319dup	956ins3, 1008ins3, 1287ins3	9	c.het. (Q1408X)	73
1530_1531ins36	A510_I511ins12	1530ins36, 1537ins36, 1541ins36	14	c.het. (2677_2685del9)	59,74
2677_2685del	Q893_A895del	2668del9, 2674del9, 2677del9, 2719del9	21	hom.	56
2694-9_2705del	? b	2694-9del21, 2745-9del21	22	c.het. (5032delG)	75
3157C>T	Q1053X	Q1053X	24	c.het. (Q1936X)	76
4222C>T	Q1408X	Q1518X	31	c.het. (L319dup)	73
4294_4306dup	V1436GfsX40	4306ins13, 4359ins13	31	c.het. (4365delC)	77
4348C>T	Q1450X		31	hom.	85
4365delC	S1456RfsX93	4416delC	31	c.het. (4294_4306dup13)	77
4643_4667dup	K1558GfsX89	R1556fs	31	c.het. (7120C>T)	86
4840G>T	E1614X		31	hom.	59
5018_5036del	L1673RfsX64	5018del19, 5069del19	31	hom.	78
5032delG	V1678WfsX65	5083delG	31	c.het. (2694-9_2505del21)	75
5105_5112del	R1702QfsX14	5105del8, 5148del8	31	hom.	19
5137C>T	Q1713X	5188C>T	31	c.het. (R2351X)	79
5257dupG	E1753GfsX17	5257insG, 5309insG, 5588insG	31	hom.	59, 80
5410G>T	E1804X	E1914X	31	hom.	87
5728C>T	Q1910X		31	hom.	54
5806C>T	Q1936X		31	c.het. (Q1053X)	76
5815delC	L1939WfsX6	5866delC	31	hom.	56
5849_5856dup	E1953WfsX8	5855ins8, 5907ins8	31	hom.	81
5854_5855del	E1952GfsX60	5854del2, 5905del2	31	hom.	78
6013G>T	E2005X		31	c.het. (K4460X)	75
6549_6582del	L2184RfsX21	A2183fs	31	c.het. (13040dupG)	86
6955C>T	R2319X		31	hom.	82
7051C>T	R2351X	7102C>T	31	c.het. (Q1713X)	79
7120C>T	Q2374X		31	c.het. (4643_4667dup)	86
7261C>T	R2421X		31	c.het. (12578_12581dup)	76
7393C>T	R2465X		31	hom.	83
12578_12581dup	Y4195DfsX41	12581ins4, 12633ins_4	32	c.het. (R2421)	76
13040dupG	I4348HfsX8	G4347fs	32	c.het. (6549_6582del)	86
13378A>T	K4460X		32	c.het. (E2005X)	75
13459_13474dup	E4492GfsX48	13473ins16, 13480ins16, 13803ins16	32	hom.	58
EBS-PA
913C>T	Q305X		9	hom.; c.het. (1344G>A)	60,67
1344G>A	? b		12	c.het. (Q305X)	67
1563_1567del	G522WfsX11	1563del4, 1567del4	14	hom.	60
2680_2693del	E894AfsX84	2680del14, 2727del14	21	hom.	66
2769_2788del f	W923CfsX53	2769del21	22	hom.	60
3565C>T	R1189X		27	hom., c.het. (Q2538X)	67
7396C>T	Q2466X		32	c.het. (Q2545X)	85
7612C>T	Q2538X		32	c.het. (R1189)	67
7633C>T	Q2545X		32	c.het. (Q2466X)	85
9085C>T	R3029X		32	hom.	60
EBS-Ogna
5998C>T	R2000W	R2110W	31	het. (dominant)	62

Only gold members can continue reading. Log In or Register to continue

Share this:

• Click to share on Twitter (Opens in new window)
• Click to share on Facebook (Opens in new window)

Related

Related posts:

How to Take Skin Biopsies for Epidermolysis Bullosa Epidermolysis Bullosa Simplex with Muscular Dystrophy Dilated Cardiomyopathy in Epidermolysis Bullosa Bone Marrow Stem Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa Epidermolysis Bullosa in France: Management in the National Reference Center for Genodermatosis Epidermolysis Bullosa in Japan

Stay updated, free articles. Join our Telegram channel

Join