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 Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Jun Deng ◽  
Dan Li ◽  
Heng Mei ◽  
Liang Tang ◽  
Hua-fang Wang ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Premature Termination ◽  
Coagulation Factor ◽  
Premature Termination Codon ◽  
Termination Codon ◽  
Chinese Family ◽  
Acceptor Site ◽  
Coagulation Factor Xiii ◽  
Fxiii Deficiency

Abstract Background Coagulation factor XIII (FXIII) plays an essential role in maintaining hemostasis by crosslinking fibrin. Deficiency in FXIII affects clot stability and increases the risk of severe bleeding. Congenital FXIII deficiency is a rare disease. Recently, we identified a Chinese family with FXIII deficiency and investigated the pathogenesis of congenital FXIII deficiency, contributing non-coding pathogenic variants. Methods We performed common tests, coding sequencing by targeted next-generation sequencing (NGS), whole-genome sequencing and splice-sites prediction algorithms. The pathogenesis was investigated via minigene and nonsense-mediated mRNA decay (NMD) by experiments in vitro. Results The proband is homozygote for a novel deep intronic c.799-12G > A mutation in the F13A1 gene. Through direct sequencing of the minigenes mRNA, we found 10 bases of intron 6 insert in the mRNA of mutant minigenes mRNA. The relative expression of EGFP-F13A1 was higher by suppression of NMD in vitro. Furthermore, we found the proband with enhanced thrombin generation (TG). Conclusion We reported a novel deep intronic c.799-12G > A mutation of F13A1 which produced a new acceptor site and frame shifting during translation introducing a premature termination codon. Our results support the premature termination codon triggered NMD. We need to pay attention to the position of potential alterable splicing sites while counselling and genetic test. The finding of enhanced TG indicated that we should be aware of the risk of thrombosis in patients with FXIII deficiency during replacement therapy.

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

Identification of a Premature Termination Mutation in the Proline-Rich Transmembrane Protein 2 Gene in a Chinese Family with Febrile Seizures

2014 ◽  
Vol 53 (2) ◽  
pp. 835-841 ◽  
Author(s):  
Wen Zheng ◽  
Jie Zhang ◽  
Xiong Deng ◽  
Jingjing Xiao ◽  
Lamei Yuan ◽  
...  
Keyword(s):  
Premature Termination ◽  
Transmembrane Protein ◽  
Febrile Seizures ◽  
Chinese Family

scholarly journals Mutation analysis of the MVD gene in a chinese family with disseminated superficial actinic porokeratosis and a chinese literature review

2021 ◽  
Vol 66 (2) ◽  
pp. 126
Author(s):  
Liangdan Sun ◽  
Wenjun Qian ◽  
Jing Wu ◽  
Huayang Tang ◽  
Qi Zhen ◽  
...  
Keyword(s):  
Literature Review ◽  
Mutation Analysis ◽  
Chinese Literature ◽  
Chinese Family ◽  
Disseminated Superficial Actinic Porokeratosis

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

Disseminated superficial actinic porokeratosis occurring in two members of an Asian family

1997 ◽  
Vol 22 (6) ◽  
pp. 280-282 ◽  
Author(s):  
G. HOLMES ◽  
S. SIDHU ◽  
S.H. WAKELIN ◽  
D. ORTON ◽  
P. MARREN
Keyword(s):  
Disseminated Superficial Actinic Porokeratosis

420 A novel SCN5A mutation (R878C) associated with sick sinus syndrome in one Chinese family

2006 ◽  
Vol 5 (1) ◽  
pp. 98-98
Author(s):  
Y ZHANG ◽  
A MA ◽  
H WAN ◽  
C HUANG ◽  
X ZHOU ◽  
...  
Keyword(s):  
Sick Sinus Syndrome ◽  
Chinese Family ◽  
Scn5a Mutation

Premature Termination II: Additional Client Factors

1985 ◽  
Author(s):  
J. Hoffman
Keyword(s):  
Premature Termination ◽  
Client Factors

Premature Termination.

1983 ◽  
Author(s):  
E. R. Rodolfa ◽  
R. Rapaport ◽  
V. E. Lee
Keyword(s):  
Premature Termination
Sign in / Sign up

Export Citation Format

Share Document