Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens

Zhang, Dongliang; Wen, Qiaolian; Li, Hanzhong; Zhao, Liang; Zhang, Xinyu; Wang, Jing; Cheng, Longfei; Yang, Jingwen; Chen, Si; Ma, Xu; Wang, Binbin

doi:10.1016/j.jcf.2012.01.005

Cited by 35 publications

(26 citation statements)

References 39 publications

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“…[6][7][8]11 Furthermore, some studies from China reported that most patients with congenital bilateral absence of vas deferens, which is also a CFTR-related disorder, had a different CFTR mutation spectrum compared to that of Caucasian patients. [23][24][25][26] These results further support the concept that the spectrum of CFTR mutations in Chinese is highly specific for the Chinese population.…”

Section: Discussionsupporting

confidence: 76%

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

et al. 2015

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Section: Discussionsupporting

confidence: 76%

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

et al. 2015

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“…Among the six Gulf Cooperation Council (GCC) countries (Bahrain, Kuwait, Oman, Qatar, Saudi Arabia and UAE), the mutations L578delTA and c.1069G>A were first reported as novel mutations in Oman; however, the latter has also been reported in the Chinese population . These two mutations result in typical clinical CF phenotypes, including pancreatic insufficiency, poor lung function and chronic Pseudomonas colonization (Table S1, Supplementary Information) .…”

Section: Resultsmentioning

confidence: 99%

Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review

et al. 2018

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Cystic fibrosis (CF) is an autosomal recessive genetic disease caused by mutations in the CFTR gene, with various clinical manifestations that affect pulmonary, digestive, exocrine and male reproductive functions as well as the bones and kidneys. This study aimed to reveal the spectrum of CFTR gene mutations in Arab CF patients and their corresponding clinical phenotypes among the 22 Arab countries. We searched four literature databases (PubMed, Science Direct, Web of Science and Scopus) from their times of inception to January 2018. All possible search terms were used to encompass the different clinical phenotypes, disease incidences, CFTR mutations, ages and consanguinity rates of CF patients in the 22 Arab countries. Our search strategy identified 678 articles; of these, 72 were eligible for this systematic review. We retrieved data from 18 Arab countries; only 1766 Arab patients with CF were identified, even after additional searches using Google and Google Scholar. The search uncovered a wide spectrum of mutations, some of which are shared with other ethnic groups and some unique to Arab patients. Although the clinical phenotypes of Arab patients were typical of CF, several distinct phenotypes were reported. Despite the rarity of genetic epidemiological studies of CF patients among the 22 Arab nations, the disease is frequently reported in Arab countries where consanguineous marriage is common. Therefore, significant attention should be paid to this problem by implementing carrier and premarital screening, newborn screening and genetic counselling.

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“…CFTR gene analyses have focused primarily on the intron 8 polymorphism, poly-T (IVS8 poly-T), as well as TG-repeats, and the M470V allele. However, only 4 studies have been performed to investigate the poly-T polymorphism and congenital bilateral absence of the vas deferens in Chinese patients [14–17]. …”

Section: Discussionmentioning

confidence: 99%

The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens

Pan

et al. 2014

BioMed Research International

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Purpose. To evaluate the significance of molecular detection of cystic fibrosis transmembrane conductance regulator (CFTR) M470V, intron 8 poly-T, and intron 8 TG-repeats in congenital bilateral absence of the vas deferens (CBAVD). Methods. Eighty-nine male patients with CBAVD and 103 healthy males were included in this study. Polymerase chain reaction was performed to amplify the polymorphic regions using primers from conserved regions. M470V was genotyped using real-time PCR by cycling probe. The exon 9 DNA sequence was determined using an automated sequencer. TG-repeats and poly-T were identified by direct sequencing analysis. Results. The 5T allele distribution was 0.32, 0.66 for 7T, and 0.02 for 9T in CBAVD males, respectively. In contrast, the 5T allele distribution was 0.03, 0.96 for 7T, and 0.01 for 9T in healthy control. Study of the polymorphisms of the upstream of exon 9 revealed a higher frequency of 5T allele in the CBAVD males. All cases with TG13T5 haplotype and TG12T5 homozygous led to CBAVD. The CFTR TG12T5-V470 variant haplotype was associated with CBAVD. Conclusion. The 5T allele of intron 8 of CFTR has clinically significant association with CBAVD. TG13T5 and TG12T5 homozygously led to CBAVD, and TG12T5-V470 may also lead to CBAVD.

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Mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) in Chinese patients with congenital bilateral absence of vas deferens

Cited by 35 publications

References 39 publications

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

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

Spectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review

The CFTR M470V, Intron 8 Poly-T, and 8 TG-Repeats Detection in Chinese Males with Congenital Bilateral Absence of the Vas Deferens

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