Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian <i>CFTR</i> mutations

Wong, Lee‐Jun C.; Alper, Özgül M.; Wang, Bao-Tyan; Lee, Mei‐Hui; Lo, Shin‐Yu

doi:10.1002/ajmg.a.20039

Cited by 20 publications

(31 citation statements)

References 16 publications

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“…2 In contrast, CF is very rare in Asian populations including Chinese. [3][4][5] However, congenital bilateral absence of the vas deferens (CBAVD) is not uncommon in Asian populations. 6 CBAVD accounts for approximately 6% of cases of obstructive azoospermia 7 and is responsible for 1%-2% of all infertility in males.…”

Section: Introductionmentioning

confidence: 99%

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

Ni¹,

Jiang²,

Fei³

et al. 2012

Asian J Androl

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Congenital bilateral absence of the vas deferens (CBAVD) is a frequent cause of obstructive azoospermia, and mutations of the cystic fibrosis transmembrane conductance regulator (CFTR) gene have also been frequently identified in patients with CBAVD. However, the distribution of the CFTR polymorphisms M470V, poly-T, TG-repeats and F508del mutation in the Chinese CBAVD population with presumed low cystic fibrosis (CF) frequency remains to be evaluated. Samples obtained from 109 Chinese infertile males with CBAVD and 104 normal controls were analyzed for the presence of CFTR (TG)m(T)n, M470V and F508del by PCR amplification followed by direct sequencing. Our study showed that the F508del mutation was not found in our patients. The 5T mutation was present with high frequency in Chinese CBAVD patients and IVS8-5T linked to either 12 or 13 TG repeats was highly prevalent among CBAVD patients (97.22% of 72 cases and 96.91% of 97 alleles with IVS8-5T). Moreover, a statistically significant relationship between TG12-5T-V470 haplotype and CBAVD was detected. This study indicated that the CFTR polymorphisms poly-T, TG-repeats and M470V might affect the process of CBAVD in the Chinese population.

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Section: Introductionmentioning

confidence: 99%

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

Ni¹,

Jiang²,

Fei³

et al. 2012

Asian J Androl

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“…Some studies have demonstrated that the genotype and phenotype in Asians with cystic fibrosis are quite different than those seen in Western populations (Macek et al 1992;Bowler et al 1993;Zielenski et al 1995;Suwanjutha et al 1998;Wagner et al 1999;Morokawa et al 2000;Heim et al 2001;Wong et al 2003;Ahn et al 2005). To date, only seven patients with cystic fibrosis (from six different families) have been reported in Taiwan, five with novel cystic fibrosis transmembrane receptor (CFTR) mutations (Wang et al 1987(Wang et al , 1993Zielenski et al 1995;Wu et al 2000;Alper et al 2003;Wong et al 2003). We report a 3-year-5-month-old boy born to Taiwanese parents with classical clinical manifestations of cystic fibrosis and who has a homozygous R553X mutation of the CFTR gene.…”

Section: Introductionmentioning

confidence: 99%

Cystic fibrosis with homozygous R553X mutation in a Taiwanese child

et al. 2005

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It has been reported that cystic fibrosis is very rare in Asians, and its clinical expression and genetic mutations are different from those found in Caucasians. We report the case of a boy who had chronic diarrhea with failure to thrive and frequent respiratory tract infections beginning at the age of 2 months. He developed bronchiectasis with chronic severe hypoxemia and pancreatic insufficiency by the age of 3 years and 5 months, which raised the consideration of cystic fibrosis. DNA analysis revealed a homozygous R553X mutation, and both his parents were subsequently proven to be R553X carriers. This case is the first report in a Taiwanese with cystic fibrosis attributable to a mutation commonly seen in Caucasians. However, the age of onset was much younger and the clinical course was more severe than those associated with Western patients. We reviewed the eight reported Taiwanese patients with cystic fibrosis, including the present case. We believe that the incidence of cystic fibrosis in Taiwan may be underestimated. Both genetic and environmental factors may play a role in the phenotypic disparity between Asians and Caucasians.

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“…Therefore, decreased CFTR expression in sperm may indicate impaired sperm quality. It should be noted that compared with Caucasians, relatively low incidence of CF or CFTR gene mutations is found in Asian populations (Wong et al 2003, Wu et al 2005. Therefore, it is unlikely that CFTR mutations would play a significant role in this study.…”

Section: Discussionmentioning

confidence: 81%

Decreased expression of cystic fibrosis transmembrane conductance regulator impairs sperm quality in aged men

et al. 2013

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Sperm quality declines with aging; however, the underlying molecular mechanism remains elusive. The cystic fibrosis transmembrane conductance regulator (CFTR) has been shown to play an essential role in fertilizing capacity of sperm and male fertility. This study aimed to investigate the involvement of age-dependent CFTR downregulation in lowering sperm quality in old age. Two hundred and one healthy fertile men of three age groups (20-40 years, nZ64; 40-60 years, nZ61; and O60 years, nZ76) were recruited. Expression of CFTR was determined by RT-PCR, western blot, and immunofluorescence staining. Collected sperm were treated with CFTR inhibitor or potentiator. Sperm quality was assessed by motility and bicarbonate-induced capacitation. The results showed that the expression of CFTR on the equatorial segment and neck region of sperm was significantly decreased in an age-dependent manner. Reduction of CFTR expression in sperm from old men was correlated with lowered forward motility and decreased HCO 3 K sensitivity required for sperm capacitation. Activation of CFTR by genistein partially rescued the decreased forward motility in sperm from old men. Decreased CFTR expression in sperm was also found to be associated with lowered sperm quality in aging mice. These results suggest that age-dependent downregulation of CFTR in sperm leads to lowered sperm quality in old age sperm. CFTR may be a pontential target for rescuing sperm motility as well as a fertility indicator in old age men.

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Two novel null mutations in a Taiwanese cystic fibrosis patient and a survey of East Asian CFTR mutations

Cited by 20 publications

References 16 publications

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

The CFTR polymorphisms poly-T, TG-repeats and M470V in Chinese males with congenital bilateral absence of the vas deferens

Cystic fibrosis with homozygous R553X mutation in a Taiwanese child

Decreased expression of cystic fibrosis transmembrane conductance regulator impairs sperm quality in aged men

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