Different Cystic Fibrosis Transmembrane Conductance Regulator Mutations in Chinese Men With Congenital Bilateral Absence of Vas Deferens and Other Acquired Obstructive Azoospermia

Lu, Shaoming; Yang, Xiaoli; Cui, Yanyi; Li, Xiao; Zhang, Hao-Bo; Liu, Jiaolong; Chen, Zi‐Jiang

doi:10.1016/j.urology.2013.06.024

Cited by 16 publications

(8 citation statements)

References 16 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: 78%

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

et al. 2015

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Section: Discussionsupporting

confidence: 78%

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

et al. 2015

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“…In fact, this is not the first time that p.F508del in CFTR has been detected in a Chinese population; it has previously been reported that p.F508del in CFTR occurs in CFTR-related disorders such as CBAVD (congenital bilateral absence of vas deferens) in the Chinese population with a very low frequency. 26 …”

Section: Discussionmentioning

confidence: 99%

p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis

et al. 2016

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Cystic fibrosis (CF), the most common life-threatening autosomal recessive disorder in Caucasians, is caused by mutations in CF transmembrane conductance regulator gene (CFTR). We and others previously identified CFTR mutations in 20 Chinese patients with CF. In this study, eight Chinese patients with a clinical diagnosis of suspected CF were newly collected and screened for CFTR mutations using a combination of conventional Sanger sequencing and multiplex ligation-dependent probe amplification (MLPA) analysis. The CFTR mutations observed in Chinese CF patients, both reported previously and identified in the present study, were also summarized. In the newly collected patients, we identified 10 different CFTR mutations, including p.F508del, the most common CF-causing mutation in Caucasians, and three novel mutations (p.V1212Afs*15; p.L666* and p.A969A). Most notably, the previously reported p.G970D mutation was found in six patients, making it the most frequent CFTR mutation identified in Chinese CF patients thus far. In conclusion, we detected p.F508del for the first time, identified additional novel CFTR mutations and recorded the most frequent CF-causing mutation in Chinese CF patients.

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“…It is believed to be rare in Asian populations including Chinese, but CBAVD is not. CFTR mutation screening, in the coding, promoter or splicing regions, has been performed in Chinese CBAVD individuals in several studies (Bai, Du, Liu, Tong, & Wu, ; Du et al, ; Li et al, ; Lu et al, ; Ni et al, ), which established a genetic link between CFTR and CBAVD in the Chinese population. However, no CBAVD pedigree with compound heterozygous variants of CFTR has been reported in the literature to date.…”

Section: Discussionmentioning

confidence: 99%

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees

Yang

Wang²,

Zhang³

et al. 2018

Molec Gen & Gen Med

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BackgroundCongenital bilateral absence of the vas deferens (CBAVD) is an important cause of obstructive azoospermia and male infertility. Mutations of CFTR caused the majority of CBAVD cases, and ADGRG2 was recently identified as a new pathogenic gene. Yet, most of the genetic evidence came from sporadic cases, and only one mutation in CFTR can be found in patients.MethodsIn present study, we collected two CBAVD pedigrees, each having two affected male siblings. We performed whole exome sequencing on all patients and validated all potential variants by Sanger sequencing.ResultsWe excluded ADGRG2 variants but identified compound heterozygous variants of CFTR in both families (NM_000492.3:c.1210‐33_1210‐6GT[13]T[5] and c.4056G>C;p.Gln1352Cys in pedigree 1, c.592G>C;p.Ala198Pro and c.3717G>A;p.Arg1239= in pedigree 2), which were subsequently validated by direct sequencing. c.1210‐33_1210‐6GT[13]T[5] (also known as IVS8‐T5‐TG13) was a known disease‐causing variant causing the skipping of exon 9 of CFTR and inherited from the proband's mother. p.Gln1352Cys and Ala198Pro were rare or novel in public databases and predicted to be deleterious. The p.Arg1239= was a synonymous variant but located at the end of an exon, which was predicted to alter the splicing pattern.ConclusionOur study, in which compound heterozygous variants were identified in two pedigrees, provides more familial evidence that only recessive variants (homozygous or compound heterozygous) in CFTR cause CBAVD. Furthermore, whole exome sequencing may be utilized as a useful tool for mutation screening of genes causing CBAVD.

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Different Cystic Fibrosis Transmembrane Conductance Regulator Mutations in Chinese Men With Congenital Bilateral Absence of Vas Deferens and Other Acquired Obstructive Azoospermia

Cited by 16 publications

References 16 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

p.G970D is the most frequent CFTR mutation in Chinese patients with cystic fibrosis

Compound heterozygous mutations in CFTR causing CBAVD in Chinese pedigrees

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