Abstract:
BACKGROUND:Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disease, and information about BBS in Chinese populations is very limited. The purpose of the present study was to determine the genetic cause of BBS in a Chinese Han family. METHODS:Clinical data were recorded for the 4-year-old female proband and the available family members. The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes (BBS1-BBS12). The variants detected in the proband were further confirmed in the other family members. RESULTS:We identified a novel homozygous nonsense mutation (c.70A>T, p.K24X) in the BBS4 gene exon 2 in the proband. Such mutant allele was predicted to cause a premature truncation in the N-terminal of the BBS4 protein, and probably induced the nonsense-mediated decay of BBS4 messenger RNAs. The proband's parents and brother were heterozygous for the nonsense mutant allele. It was absent in 50 Chinese control subjects. An additional rare heterozygous missense single nucleotide polymorphism (SNP) named rs200718870 in BBS10 gene was also detected in the proband, her father and her brother. Some manifestations of the proband including atypical retinitis pigmentosa, choroidal sclerosis, high myopia, and early onset of obesity might be associated with this mutation in BBS4 gene. The proband's father also reported surgical removal of an extra finger during childhood. CONCLUSIONS:The present study described a novel nonsense mutation in BBS4 gene in a Chinese family. This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein. We also detected a rare heterozygous missense SNP in BBS10 gene in the family, but did not find sufficient evidence to support the triallelic inheritance.
journal_name
Chin Med J (Engl)journal_title
Chinese medical journalauthors
Li Q,Zhang Y,Jia L,Peng Xsubject
Has Abstractpub_date
2014-01-01 00:00:00pages
4190-6issue
24eissn
0366-6999issn
2542-5641journal_volume
127pub_type
杂志文章abstract:OBJECTIVE:To investigate the expressions of hypothalamic arginine vasopressin (AVP) mRNA, renal AVP V2 receptor mRNA, and AVP-dependent aquaporin-2 (AQP2) mRNA in rats with adriamycin-induced nephrotic syndrome. Effects of Chinese herb Astragalus membranaceus (AM) were also tested. METHODS:Sprague-Dawley rats with fou...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1999-12-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
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abstract:BACKGROUND:Aquired immune deficiency syndrome (AIDS) presents a challenge to medical researchers because of its unique pathological and clinical picture. The clinical data, particularly autopsy evidence, from China have failed to provide enough pathological and etiological evidence for AIDS diagnosis, which impairs the...
journal_title:Chinese medical journal
pub_type: 杂志文章
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abstract:BACKGROUND:Over the years, the mechanical ventilation (MV) strategy has changed worldwide. The aim of the present study was to describe the ventilation practices, particularly lung-protective ventilation (LPV), among brain-injured patients in China. METHODS:This study was a multicenter, 1-day, cross-sectional study in...
journal_title:Chinese medical journal
pub_type: 杂志文章,多中心研究
doi:10.4103/0366-6999.185869
更新日期:2016-07-20 00:00:00
abstract:Background:Pompe disease is a rare lysosomal glycogen storage disorder linked to the acid alpha-glucosidase gene (GAA). A wide clinical and genetic variability exists between patients from different ethnic populations, and the genotype-phenotype correlations are still not well understood. The aim of this study was to r...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.225056
更新日期:2018-02-20 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1993-08-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1995-09-01 00:00:00
abstract:BACKGROUND:The prognostic values of the coronary computed tomography angiography (CCTA) score for predicting future cardiovascular events have been previously demonstrated in numerous studies. However, few studies have used the rich information available from CCTA to detect functionally significant coronary lesions. We...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.194636
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abstract:BACKGROUND:The coordinated change of haematopoietic supporting microenvironment in bone marrow (BM) is crucial for innate immunity and inflammation. As the precursors of marrow stroma, BM derived mesenchymal stem cells (MSCs) promote haematopoietic function, but their roles in innate immunity or inflammation have not b...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2007-10-05 00:00:00
abstract:BACKGROUND:This retrospective study aimed to investigate the difference of the intra-dural reserving space for spinal cord in magnetic resonance imaging (MRI) between patients with and without developmental cervical stenosis and its clinical significance. METHODS:A total of 264 patients with cervical spondylotic myelo...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Jaw osteonecrosis possibly associated with the administration of bisphosphonates is expected to be treated with a non-pharmacologic approach. This study aimed to determine whether noninvasive, mechanically mediated vibration would inhibit the decline in bone mineral density (BMD) that follows menopause, enha...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-07-05 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2002-04-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2012-06-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2009-12-20 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2008-12-20 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章,meta分析
doi:
更新日期:2013-11-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2001-02-01 00:00:00
abstract:BACKGROUND:Since early December 2019, the 2019 novel coronavirus disease (COVID-19) has caused pneumonia epidemic in Wuhan, Hubei province of China. This study aimed to investigate the factors affecting the progression of pneumonia in COVID-19 patients. Associated results will be used to evaluate the prognosis and to f...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.1097/CM9.0000000000000775
更新日期:2020-05-05 00:00:00
abstract:OBJECTIVE:To investigate the correlation among retinal fluorescein angiography, blood viscosity, and other factors in patients with open angle glaucoma (POAG). METHODS:Multiple step regression analysis was made to investigate the correlation between each of the following blood vessel filling times: the arm-choroid (A-...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1997-09-01 00:00:00
abstract:BACKGROUND:Patients with atherosclerotic renal artery stenosis (ARAS) are in substantial risk of cardiovascular adverse events. We investigated whether myocardial infarction patients with ARAS are in additional risk of cardiovascular events. METHODS:In this retrospective study, 257 patients with type 1 myocardial infa...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.1097/CM9.0000000000000380
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:10.4103/0366-6999.243558
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-01-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:1997-05-01 00:00:00
abstract:BACKGROUND:Major atrial coronary arteries, including the sinus node artery (SNA), were commonly found in the areas involved in atrial fibrillation (AF) ablation and could cause difficulties in achieving linear block at the left atrial (LA) roof. The SNA is a major atrial coronary artery of the atrial coronary circulati...
journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2013-01-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2014-01-01 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
更新日期:2005-08-20 00:00:00
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journal_title:Chinese medical journal
pub_type: 杂志文章
doi:
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