Abstract:
BACKGROUND:Wieacker-Wolff syndrome (WWS) is a congenital X-linked neuromuscular disorder, which was firstly reported in 1985. Zinc finger C4H2-type containing (ZC4H2) gene has been found to be associated with the disease pathogenesis. However, the underlying mechanism remains elusive. METHODS:Whole-exome sequencing was performed to identify the mutations. Expression plasmids were constructed and cell culture and immune-biochemical assays were used to examine the effects of the mutation. RESULTS:We reported a female patient with classical symptoms of WWS and discovered a novel nonsense heterozygous mutation (p.R67X; c.199C>T) in ZC4H2 gene in the patient but not in her parents. The mutation resulted in a 66 amino-acid truncated ZC4H2 protein. The mutation is located in the key helix domain and it altered the subcellular locations of the mutant ZC4H2 protein. X-chromosome inactivation (XCI) pattern analysis revealed that the XCI ratio of the proband was 22:78. CONCLUSION:Female heterozygous carriers with nonsense mutation with a truncated ZC4H2 protein could lead to the pathogenesis of Wieacker-Wolff syndrome and our study provides a potential new target for the disease treatment.
journal_name
Mol Genet Genomic Medjournal_title
Molecular genetics & genomic medicineauthors
Wang D,Hu D,Guo Z,Hu R,Wang Q,Liu Y,Liu M,Meng Z,Yang H,Zhang Y,Cai F,Zhou W,Song Wdoi
10.1002/mgg3.1100subject
Has Abstractpub_date
2020-02-01 00:00:00pages
e1100issue
2issn
2324-9269journal_volume
8pub_type
杂志文章abstract:BACKGROUND:MicroRNA-33a (miR-33a) plays the role of the tumor suppressor gene by regulating the expression level of downstream genes. However, the effects of miR-33a in renal cell cancer (RCC) remain unknown. Our study was designed to investigate the expression level and potential function of miR-33a in RCC. METHODS:R...
journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2014-03-01 00:00:00
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更新日期:2020-12-11 00:00:00
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
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journal_title:Molecular genetics & genomic medicine
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更新日期:2014-11-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2020-05-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2018-11-01 00:00:00
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journal_title:Molecular genetics & genomic medicine
pub_type: 临床试验,杂志文章,多中心研究
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journal_title:Molecular genetics & genomic medicine
pub_type: 杂志文章
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更新日期:2019-07-01 00:00:00
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更新日期:2019-12-01 00:00:00