A novel frameshift mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria and the dermoscopic features

2017 ◽  
Vol 31 (11) ◽  
pp. e484-e485
Author(s):  
C. Chi ◽  
Y. Luo ◽  
J. Liu
Keyword(s):  
Frameshift Mutation ◽  
Chinese Patient ◽  
Dyschromatosis Symmetrica Hereditaria

scholarly journals A novel missense mutation in ADAR1 gene causing dyschromatosis symmetrica hereditaria in a Chinese patient

2015 ◽  
Vol 81 (3) ◽  
pp. 327
Author(s):  
Cheng-Rang Li ◽  
Zhi-Liang Li ◽  
Guo-Yi Zhang ◽  
Yun Hui ◽  
Rui-Xing Yu ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Chinese Patient ◽  
Dyschromatosis Symmetrica Hereditaria

A novel deletion mutation of the ADAR1 gene in a Chinese patient with dyschromatosis symmetrica hereditaria

2014 ◽  
Vol 93 (2) ◽  
pp. 523-525 ◽  
Author(s):  
WEI-WEI LI ◽  
QIU-YUE WU ◽  
NA LI ◽  
DE-QUAN DENG ◽  
RU-SONG ZHANG ◽  
...  
Keyword(s):  
Chinese Patient ◽  
Deletion Mutation ◽  
Dyschromatosis Symmetrica Hereditaria

scholarly journals A novel mutation of SATB2 inhibits odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway

2021 ◽  
Vol 12 (1) ◽  
Author(s):  
Tianyi Xin ◽  
Qian Li ◽  
Rushui Bai ◽  
Ting Zhang ◽  
Yanheng Zhou ◽  
...  
Keyword(s):  
Stem Cells ◽  
Signaling Pathway ◽  
Dental Pulp ◽  
Frameshift Mutation ◽  
Novel Mutation ◽  
Chinese Patient ◽  
Histone Demethylase ◽  
Tooth Agenesis ◽  
Wild Type ◽  
Human Dental Pulp

Abstract Background SATB2-associated syndrome (SAS) is a multisystem disorder caused by mutation of human SATB2 gene. Tooth agenesis is one of the most common phenotypes observed in SAS. Our study aimed at identifying novel variant of SATB2 in a patient with SAS, and to investigate the cellular and molecular mechanism of tooth agenesis caused by SATB2 mutation. Methods We applied whole exome sequencing (WES) to identify the novel mutation of SATB2 in a Chinese patient with SAS. Construction and overexpression of wild-type and the mutant vector was performed, followed by functional analysis including flow cytometry assay, fluorescent immunocytochemistry, western blot, quantitative real-time PCR and Alizarin Red S staining to investigate its impact on hDPSCs and the underlying mechanisms. Results As a result, we identified a novel frameshift mutation of SATB2 (c. 376_378delinsTT) in a patient with SAS exhibiting tooth agenesis. Human DPSCs transfected with mutant SATB2 showed decreased cell proliferation and odontogenic differentiation capacity compared with hDPSCs transfected with wild-type SATB2 plasmid. Mechanistically, mutant SATB2 failed to translocate into nucleus and distributed in the cytoplasm, failing to activate Wnt/β-catenin signaling pathway, whereas the wild-type SATB2 translocated into the nucleus and upregulated the expression of active β-catenin. When we used Wnt inhibitor XAV939 to treat hDPSCs transfected with wild-type SATB2 plasmid, the increased odontogenic differentiation capacity was attenuated. Furthermore, we found that SATB2 mutation resulted in the upregulation of DKK1 and histone demethylase JHDM1D to inhibit Wnt/β-catenin signaling pathway. Conclusion We identified a novel frameshift mutation of SATB2 (c.376_378delinsTT, p.Leu126SerfsX6) in a Chinese patient with SATB2-associated syndrome (SAS) exhibiting tooth agenesis. Mechanistically, SATB2 regulated osteo/odontogenesis of human dental pulp stem cells through Wnt/β-catenin signaling pathway by regulating DKK1 and histone demethylase JHDM1D.

A Novel Frameshift Mutation in CDKL5 Causes Epilepsy in A Chinese Patient

2021 ◽  
Vol 03 (10) ◽  
Author(s):  
Zhan W ◽  
Dou X ◽  
Mi Y ◽  
Zhang J ◽  
Zhang Y ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Chinese Patient

scholarly journals A case of congenital Rett variant in a Chinese patient caused by a FOXG1 mutation

2020 ◽  
Vol 40 (4) ◽  
pp. 347-353
Author(s):  
Yan Niu ◽  
Lirong Cao ◽  
Peng Zhao ◽  
Chunquan Cai
Keyword(s):  
High Throughput Sequencing ◽  
Frameshift Mutation ◽  
Hand Movement ◽  
Chinese Patient ◽  
Chinese Patients ◽  
Neurodevelopmental Disease ◽  
Developmental Regression ◽  
Pathogenic Genes ◽  
Motor Retardation ◽  
Reading Frames

ABSTRACT Rett syndrome (RTT) is a severe progressive neurodevelopmental disease characterized by psychomotor regression. The FOXG1 gene is one of the pathogenic genes associated with the congenital Rett variant, which is less studied. Only a few Chinese patients with FOXG1 mutation have been reported. In this study, we describe a Chinese female patient with congenital Rett variant who presented with psycho-motor retardation, developmental regression, microcephaly, seizure, stereotypic hand movement and hypotonia. Targeted high-throughput sequencing was conducted, and a heterozygous FOXG1 mutation [NM_005249.4: c.506dupG (P.G169Gfs* 286)] was identified. It was a frameshift mutation resulting in alteration of the reading frames downstream of the mutation. SIMILAR CASES PUBLISHED: 10. CONFLICT OF INTEREST: None.

scholarly journals A novel frameshift mutation in ubiquitin-specific protease 26 gene in a patient with severe oligozoospermia

2020 ◽  
Vol 40 (4) ◽  
Author(s):  
Leilei Li ◽  
Qi Xi ◽  
Hongguo Zhang ◽  
Jia Fei ◽  
Yuting Jiang ◽  
...  
Keyword(s):  
Male Infertility ◽  
Frameshift Mutation ◽  
Bioinformatics Analysis ◽  
Chinese Patient ◽  
Deubiquitinating Enzyme ◽  
Deubiquitinating Enzymes ◽  
Severe Oligozoospermia ◽  
Specific Protease ◽  
Ubiquitin Specific Protease ◽  
Testis Tissue

Abstract Ubiquitin-specific protease 26 (USP26) encodes a predicted protein containing his- and cys- domains that are conserved among deubiquitinating enzymes. USP26 is specifically expressed in testis tissue and is a potential infertility gene. In the present study, we performed genetic testing related to spermatogenesis impairment in a patient with idiopathic severe oligozoospermia to identify the cause. The patient underwent clinical examination and reproductive hormone testing. Genes associated with male infertility, including USP26, were assessed by targeted exome sequencing. A novel frameshift mutation, c.2195delT (p.Phe732Serfs*14), was identified in USP26. This frameshift mutation was located in residue 732 of USP26 gene, leading to loss of the conserved deubiquitinating enzyme His-domain and producing a truncated protein of 744 amino acids. Bioinformatics analysis revealed this mutation to be pathogenic. A novel framshift mutation c.2195delT (p.Phe732Serfs*14) in USP26 gene was reported to be associated with male infertility in a Chinese patient with severe oligozoospermia.

A frameshift mutation in the ADAR gene in a Korean family with dyschromatosis symmetrica hereditaria

2014 ◽  
Vol 24 (6) ◽  
pp. 693-695
Author(s):  
Young Bok Lee ◽  
Seung Bok Lee ◽  
Su Jin Kim ◽  
Sae Mi Park ◽  
Hye Rim Ko ◽  
...  
Keyword(s):  
Frameshift Mutation ◽  
Korean Family ◽  
Dyschromatosis Symmetrica Hereditaria ◽  
Adar Gene
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