A novel non-frameshift deletion in MVK gene responsible for disseminated superficial actinic porokeratosis in one Chinese family

2017 ◽  
Vol 31 (11) ◽  
pp. e510-e512
Author(s):  
C.-X. Li ◽  
S.-L. Sun ◽  
J.-Y. Liang ◽  
Y.-Q. Yuan ◽  
S.-Q. Zhang ◽  
...  
Keyword(s):  
Chinese Family ◽  
Frameshift Deletion ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Mvk Gene

Novel mutation in MVK gene for co‐occurrence of disseminated superficial actinic porokeratosis with porokeratosis ptychotropica

2021 ◽  
Author(s):  
Jia‐Mei Peng ◽  
Xue‐Min Xiao ◽  
Jia‐Wen Chen ◽  
Li‐Fen Chen ◽  
Bo Cheng ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Porokeratosis Ptychotropica ◽  
Mvk Gene

A novel premature termination mutation in FDPS in a Chinese family with disseminated superficial actinic porokeratosis

2019 ◽  
Vol 180 (6) ◽  
pp. 1545-1546
Author(s):  
P.‐Q. Zhu ◽  
H.‐M. Yan ◽  
H.‐J. Zhao ◽  
D.‐Y. Guo ◽  
W. Jiang
Keyword(s):  
Premature Termination ◽  
Chinese Family ◽  
Disseminated Superficial Actinic Porokeratosis

scholarly journals A novel MVK gene mutation in a Chinese patient with disseminated superficial actinic porokeratosis

2015 ◽  
Vol 33 (1) ◽  
pp. 45-46 ◽  
Author(s):  
Yuanyuan Xu ◽  
Xi'an Fu ◽  
Baoqi Yang ◽  
Hong Liu ◽  
Furen Zhang
Keyword(s):  
Gene Mutation ◽  
Chinese Patient ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Mvk Gene

scholarly journals Coexist of Disseminated Superficial Actinic Porokeratosis and Porokeratosis Ptychotropica with A Novel MVK Gene Mutation: A Case Report and Literature Review

2021 ◽  
Author(s):  
Hongjun Xu ◽  
Linfeng Li
Keyword(s):  
Gene Mutation ◽  
Skin Lesions ◽  
Causative Mutation ◽  
Case Presentation ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Cornoid Lamella ◽  
Physical Examinations ◽  
Skin Biopsies ◽  
Porokeratosis Ptychotropica ◽  
Mvk Gene

Abstract Background: Porokeratosis is a rare, acquired or inherited disorder of keratinization. There are numerous clinical types of porokeratosis and they could coexist in one patient and in multiple members of an affected family. However, coexist of disseminated superficial actinic porokeratosis (DSAP) and porokeratosis ptychotropica (Ppt) is rare.Case presentation: A 45-year-old man presented with long-standing skin lesions. Physical examinations found numerous small, brown 2- to 4-mm patches on his face and several hyperkeratotic, verrucous plaques on his trunk and extremities. His father and one of his brothers also had similar lesions for years. Skin biopsies showed a cornoid lamella in the epidermis. And we identified c.155 G>A mutation of the mevalonate kinase (MVK) gene convertting a serine residue to asparagine (p.Ser52Asn) was the causative mutation for porokeratosis in this family. The clinicopathologic diagnosis of DSAP and Ppt with a novel MVK gene mutation was made. The hyperkeratotic plaques on the patient's scrotum were completely removed by microwave knife for more than 10 times. Conclusion: We report an unusual case of DSAP coexisting with Ppt and identified a novel MVK gene mutation in this patient's family. The microwave knife is an effective and safe therapy for porokeratosis.

Brachydactyly type A3 is caused by a novel 13 bp HOXD13 frameshift deletion in a Chinese family

2020 ◽  
Vol 182 (10) ◽  
pp. 2432-2436
Author(s):  
Mengshu Zhang ◽  
Likui Lu ◽  
Bin Wei ◽  
Yingying Zhang ◽  
Xiang Li ◽  
...  
Keyword(s):  
Chinese Family ◽  
Frameshift Deletion

Identification of three mutations in the MVK gene in six patients associated with disseminated superficial actinic porokeratosis

2016 ◽  
Vol 454 ◽  
pp. 124-129 ◽  
Author(s):  
Ying Liu ◽  
Jiuxiang Wang ◽  
Yayun Qin ◽  
Changzheng Huang ◽  
Stephen Archacki ◽  
...  
Keyword(s):  
Disseminated Superficial Actinic Porokeratosis ◽  
Mvk Gene

A novel SPTB frameshift deletion causing hereditary spherocytosis identified by next‐generation sequencing in a Chinese family

2021 ◽  
Author(s):  
Ru‐Qing Zhao ◽  
Fan Jiang ◽  
Jian Li ◽  
Jian‐Ying Zhou ◽  
Xue‐Wei Tang ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Hereditary Spherocytosis ◽  
Chinese Family ◽  
Next Generation ◽  
Frameshift Deletion ◽  
Generation Sequencing

A novel MVK missense mutation in one Chinese family with disseminated superficial actinic porokeratosis

2014 ◽  
Vol 41 (11) ◽  
pp. 7229-7233 ◽  
Author(s):  
Wen-sheng Lu ◽  
Xiao-dong Zheng ◽  
Xiu-hua Yao ◽  
Lan-fang Zhang ◽  
Mu-Qiu Wang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Family ◽  
Disseminated Superficial Actinic Porokeratosis

Mutation analysis of the MVK gene in Chinese patients with disseminated superficial actinic porokeratosis

2013 ◽  
Vol 72 (3) ◽  
pp. 320-322 ◽  
Author(s):  
Jingxin Dai ◽  
Mingfei Chen ◽  
Xi’an Fu ◽  
Yongxiang Yu ◽  
Zhongxiang Shi ◽  
...  
Keyword(s):  
Mutation Analysis ◽  
Chinese Patients ◽  
Disseminated Superficial Actinic Porokeratosis ◽  
Mvk Gene

scholarly journals A novel frameshift deletion in the COL1A1 gene identified in a Chinese family with osteogenesis imperfecta

2015 ◽  
Vol 14 (4) ◽  
pp. 15295-15300 ◽  
Author(s):  
N. Fan ◽  
J.B. Jonas ◽  
F. He ◽  
N.H. Yan ◽  
Y. Wang ◽  
...  
Keyword(s):  
Osteogenesis Imperfecta ◽  
Chinese Family ◽  
Col1a1 Gene ◽  
Frameshift Deletion
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