A novel KRT14 null mutation leads to autosomal recessive epidermolysis bullosa simplex

被引：0

作者：

Banner, Lauren ^{[1
]}

Cohen, Alexa ^{[1
]}

McGrath, Lauren ^{[1
]}

Nikbakht, Neda ^{[1
]}

South, Andrew P. ^{[1
,2
,3
]}

机构：

[1] Thomas Jefferson Univ, Dept Dermatol & Cutaneous Biol, Philadelphia, PA 19144 USA

[2] Thomas Jefferson Univ, Joan & Joel Rosenbloom Res Ctr Fibrot Dis, Philadelphia, PA 19144 USA

[3] Thomas Jefferson Univ, Sidney Kimmel Canc Ctr, Philadelphia, PA 19144 USA

来源：

CLINICAL AND EXPERIMENTAL DERMATOLOGY | 2023年 / 48卷 / 04期

关键词：

D O I：

10.1093/ced/llac129

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

We describe a novel homozygous KRT14 (also known as K14) mutation detected in a patient with a relatively mild form of epidermolysis bullosa simplex (EBS). Our patient harbours loss of function of both alleles of the KRT14 gene. This is the 16th reported mutation of recessive EBS in KRT14.

引用

页码：431 / 433

页数：3

共 50 条

[41] Utilization of a cryptic noncanonical donor splice site in the KRT14 gene causes a mild form of epidermolysis bullosa simplex
Han, S.
Cooper, D. N.
Bowden, P. E.
BRITISH JOURNAL OF DERMATOLOGY, 2006, 155 (01) : 201 - 203
[42] AUTOSOMAL RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX - A CASE-REPORT
ABANMI, A
JOSHI, RK
ATUKORALA, DN
PEDERSEN, NB
KHAMIS, OA
BRITISH JOURNAL OF DERMATOLOGY, 1994, 130 (01) : 115 - 117
[43] Novel sporadic and recurrent mutations in KRT5 and KRT14 genes in Polish epidermolysis bullosa simplex patients: further insights into epidemiology and genotype-phenotype correlation
Wertheim-Tysarowska, K.
Oldak, M.
Giza, A.
Kutkowska-Kazmierczak, A.
Sota, J.
Przybylska, D.
Wozniak, K.
Sniegorska, D.
Niepokoj, K.
Sobczynska-Tomaszewska, A.
Rygiel, A. M.
Ploski, R.
Bal, J.
Kowalewski, C.
JOURNAL OF APPLIED GENETICS, 2016, 57 (02) : 175 - 181
[44] A keratin 14 'knockout' mutation in recessive epidermolysis bullosa simplex resulting in less severe disease
Batta, K
Rugg, EL
Wilson, NJ
West, N
Goodyear, H
Lane, EB
Gratian, M
Dopping-Hepenstal, P
Moss, C
Eady, RAJ
BRITISH JOURNAL OF DERMATOLOGY, 2000, 143 (03) : 621 - 627
[45] Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1)
Wen, D.
Balacco, D. L.
Bardhan, A.
Harper, N.
Walsh, D.
Ryan, G.
Liu, L.
Guy, A.
McGrath, J. A.
Ogboli, M.
Heagerty, A. H. M.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2022, 47 (02) : 497 - 502
[46] Autosomal recessive epidermolysis bullosa simplex: report of three cases from India
Yenamandra, V. K.
Shamsudheen, K. V.
Madhumita, R. C.
Rijith, J.
Ankit, V.
Scaria, V.
Sridhar, S.
Kabra, M.
Sharma, V. K.
Sethuraman, G.
CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2017, 42 (07) : 800 - 803
[47] Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex
Tu, Wei-Ting
Chen, Peng-Chieh
Hou, Ping-Chen
Huang, Hsin-Yu
Wang, Jing-Yu
Chao, Sheau-Chiou
Lee, Julia Yu-Yun
Mcgrath, John A.
Natsuga, Ken
Hsu, Chao-Kai
ACTA DERMATO-VENEREOLOGICA, 2020, 100 : 1 - 2
[48] AUTOSOMAL RECESSIVE EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY DUE TO PLECTIN MUTATION - CASE REPORT FROM INDIA
Sathishkumar, Dharshini
Emmanuel, Naina
George, Renu
ACTA DERMATO-VENEREOLOGICA, 2020, 100 : 47 - 48
[49] Mosaic expression of keratin 14 in a revertant with recessive epidermolysis bullosa simplex
Jonkman, MF
Hut, P
van der Steege, G
Pas, HH
Scheffer, H
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2000, 115 (03) : 575 - 575
[50] A MISSENSE MUTATION IN THE ROD DOMAIN OF KERATIN-14 ASSOCIATED WITH RECESSIVE EPIDERMOLYSIS-BULLOSA SIMPLEX
HOVNANIAN, A
POLLACK, E
HILAL, L
ROCHAT, A
PROST, C
BARRANDON, Y
GOOSSENS, M
NATURE GENETICS, 1993, 3 (04) : 327 - 332

← 1 2 3 4 5 →