Characterization of gene mutations and phenotypes of cystic fibrosis in <scp>C</scp>hinese patients

Liu, Yaping; Wang, Lianqing; Tian, Xinlun; Xu, Kai‐Feng; Xu, Weifeng; Li, Xue; Yue, Cai; Zhāng, Peng; Xiao, Yi; Zhang, Xue

doi:10.1111/resp.12452

Cited by 35 publications

(60 citation statements)

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“…Although p.I1023R is the most common CFTR mutation in our cohort, it was not observed in the cohort of 20 CF patients recently reported by investigators from Beijing (Liu et al. ; Tian et al. ).…”

Section: Discussioncontrasting

confidence: 64%

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

Leung

Ying

Mak

et al. 2016

Molec Gen & Gen Med

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BackgroundCystic fibrosis (CF) is a rare condition in Asians. Since 1985, only about 30 Chinese patients have been reported with molecular confirmation.MethodUsing our in‐house next‐generation sequencing (NGS) pipeline for childhood bronchiectasis, we identified disease‐causing CFTR mutations in CF patients in Hong Kong. After identifying p.I1023R in multiple patients, haplotype analysis was performed with genome‐wide microarray to ascertain the likelihood of this being a founder mutation. We also assessed the processing and gating activity of the mutant protein by Western hybridization and patch‐clamp test.ResultsMolecular diagnoses were confirmed in four patients, three of whom shared a missense mutation: CFTR:c.3068T>G:p.I1023R. The results suggested that p.I1023R is a founder mutation in southern Han Chinese. In addition, the processing and gating activity of the mutant protein was assessed by gel electrophoresis and a patch‐clamp test. The mutant protein exhibited trafficking defects, suggesting that the dysfunction is caused by reduced cell surface expression of the fully glycosylated proteins.ConclusionTogether with other previously reported mutations, the specific founder mutation presented herein suggests a unique CFTR mutation spectrum in the southern Chinese populations, and this finding has vital implications for improving molecular testing and mutation‐specific treatments for Chinese patients with CF.

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Section: Discussioncontrasting

confidence: 64%

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

Leung

Ying

Mak

et al. 2016

Molec Gen & Gen Med

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“…10 We also demonstrated a detailed comparison between the skin patch and two clinical standard methods (Fig. The results are concordant with the diagnostic results based on QPIT, clinical manifestations and gene sequencing.…”

supporting

confidence: 79%

A paper-based skin patch for the diagnostic screening of cystic fibrosis

Xin

Fan

et al. 2015

Chem. Commun.

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“…We excluded patients with cystic fibrosis in this study because it is very rare in the Chinese population. [26] …”

Section: Resultsmentioning

confidence: 99%

Combined inhaled corticosteroid and long-acting β2-adrenergic agonist therapy for noncystic fibrosis bronchiectasis with airflow limitation

Wei

Yang²,

Lu³

et al. 2016

Medicine

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Characterization of gene mutations and phenotypes of cystic fibrosis in Chinese patients

Abstract: CF in China is difficult to diagnose because of a combination of low awareness, atypical clinical symptoms, and a lack of sweat and genetic testing facilities in most hospitals. The mutations identified in Chinese CF patients are different from the common Caucasian gene mutations.

Cited by 35 publications

References 20 publications

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

CFTR founder mutation causes protein trafficking defects in Chinese patients with cystic fibrosis

A paper-based skin patch for the diagnostic screening of cystic fibrosis

Combined inhaled corticosteroid and long-acting β2-adrenergic agonist therapy for noncystic fibrosis bronchiectasis with airflow limitation

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