Rare CFTR Mutation 1525-1G〉A in a Pakistani Patient

Wahab, Abdul; Thani, G. Al; Dawod, S. T.; Kambouris, Marios; Hamed, Moath

doi:10.1093/tropej/50.2.120

Cited by 11 publications

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“…Unlike other countries where F508del is the most common mutation, this study showed that c.1393-1G>A (legacy name: 1525-1G>A) is the most occurring CFTR mutation among a cohort of Palestinians affected by CF despite the fact that this mutation is infrequent in the neighboring countries, and considered rare worldwide [ 19 ]. This splicing mutation was first described in 1993 in a CF patient of Indo-Iranian origin [ 20 ], and a subsequent study reported three Pakistani patients, two were homozygous and the third patient was heterozygous [ 21 ]. Recently, unlike the initial report by Wahab et al from Pakistan [ 21 ], Nikolic and co-workers stated that no homozygotes for this mutation have been reported so far [ 19 ].…”

Section: Discussionmentioning

confidence: 99%

“…This splicing mutation was first described in 1993 in a CF patient of Indo-Iranian origin [ 20 ], and a subsequent study reported three Pakistani patients, two were homozygous and the third patient was heterozygous [ 21 ]. Recently, unlike the initial report by Wahab et al from Pakistan [ 21 ], Nikolic and co-workers stated that no homozygotes for this mutation have been reported so far [ 19 ]. Interestingly, this mutation was detected in six families out of the twenty one involved in our study in both homozygous (28.6%), and heterozygous (4.8%) forms.…”

Section: Discussionmentioning

confidence: 99%

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Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine

et al. 2015

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Cystic fibrosis (CF) is an autosomal recessive inherited life-threatening disorder that causes severe damage to the lungs and the digestive system. In Palestine, mutations in the Cystic Fibrosis Transmembrane Conductance Regulator gene (CFTR) that contributes to the clinical presentation of CF are ill defined. A cohort of thirty three clinically diagnosed CF patients from twenty one different Palestinian families residing in the central and southern part of Palestine were incorporated in this study. Sweat chloride testing was performed using the Sweat Chek Conductivity Analyzer (ELITECH Group, France) to confirm the clinical diagnosis of CF. In addition, nucleic acid from the patients’ blood samples was extracted and the CFTR mutation profiles were assessed by direct sequencing of the CFTR 27 exons and the intron-exon boundaries. For patient’s DNA samples where no homozygous or two heterozygous CFTR mutations were identified by exon sequencing, DNA samples were tested for deletions or duplications using SALSA MLPA probemix P091-D1 CFTR assay. Sweat chloride testing confirmed the clinical diagnosis of CF in those patients. All patients had NaCl conductivity >60mmol/l. In addition, nine different CFTR mutations were identified in all 21 different families evaluated. These mutations were c.1393-1G>A, F508del, W1282X, G85E, c.313delA, N1303K, deletion exons 17a-17b-18, deletion exons 17a-17b and Q1100P. c.1393-1G>A was shown to be the most frequent occurring mutation among tested families. We have profiled the underling mutations in the CFTR gene of a cohort of 21 different families affected by CF. Unlike other studies from the Arab countries where F508del was reported to be the most common mutation, in southern/central Palestine, the c.1393-1G>A appeared to be the most common. Further studies are needed per sample size and geographic distribution to account for other possible CFTR genetic alterations and their frequencies. Genotype/phenotype assessments are also recommended and finally carrier frequency should be ascertained.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine

et al. 2015

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“…The Canadian study which detected this case suggests that the prevalence and natural history of CF in South Asians is similar to that among individuals of European origin [41]. This mutation has been reported in Pakistani and Afghan patients who showed severe phenotypic features [38, 42, 43]. Nevertheless a Serbian patient homozygous for the same mutation showed a mild form of CF [44].…”

Section: Discussionmentioning

confidence: 52%

Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

et al. 2019

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Background Cystic fibrosis has been largely under-diagnosed and thus, limited data is available on the incidence of cystic fibrosis in Sri Lanka. Our aim is to describe the phenotypic and genotypic spectrum of children with cystic fibrosis in Sri Lanka. Case presentation This report describes 10 unrelated cystic fibrosis cases with phenotypic features of cystic fibrosis and abnormal or intermediate sweat tests. The most common phenotypic features in this sample of symptomatic patients were persistent or recurrent lower respiratory tract infections, failure to thrive and Pseudo-Bartter syndrome. Altogether 7 cystic fibrosis causing mutations were identified in 10 patients. Except delta F508 which is the commonest mutation worldwide all the other mutations detected in Sri Lankan patients are rare mutations. 1161delC and V456A detected in our patients are South Asian mutations. The other mutations such as [C.1282C > G; C.2738A > G], C.53 + 1G > C, 2184insA and a deletion encompassing exons 4 to 11 have been reported previously from European patients with cystic fibrosis. Conclusion These cases highlight the importance of considering the diagnosis of cystic fibrosis in children and young adults presenting with persistent respiratory tract infections associated with severe malnutrition and Pseudo-Bartter syndrome, especially in low income countries where newborn screening for cystic fibrosis is not available. The spectrum of CFTR mutations in Sri Lanka is heterogeneous and possibly linked to genetic flow from Indian subcontinent and Europe. The common mutations should be identified by sequencing the entire CFTR gene in adequate number of cystic fibrosis patients in order to design a mutation panel for common regional mutations.

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“…Abdul Wahab et al described the case of a Syrian CF child homozygous for the ΔF508 mutation with severe clinical manifestations [17]. The 1525-1G > A mutation associated with severe CF was found in a Pakistani child reported on by Abdul Wahab et al [18]. The N1303K homozygous mutation was detected in an Egyptian child with pseudo-Bartter’s syndrome and was reported on in two case reports discussing the various findings [19, 20].…”

Section: The History Of Cystic Fibrosis In Qatarmentioning

confidence: 99%

Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions

Hammoudeh

Gadelhak

AbdulWahab

et al. 2019

Multidiscip Respir Med

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Cystic fibrosis (CF) is a genetic disease caused by a defect of CF transmembrane conductance regulator (CFTR) gene. CF affects multiple systems, predominantly with respiratory involvement. In Qatar, researchers have been exploring various aspects of the disease for almost 20 years. PubMed and Google Scholar were reviewed for articles related to CF in Qatar. The first publication appeared in the year 2000. Since then, several studies have been conducted on CF patients in Qatar considering a variety of topics. The presence of the CFTR I1234V mutation in a certain Arab tribe stands out as a distinguishing characteristic of CF patients in Qatar when compared to the larger Arab region or even worldwide. We aim here to summarize the existing CF research conducted in Qatar over the years as well as to introduce topics for future research.

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Rare CFTR Mutation 1525-1G〉A in a Pakistani Patient

Cited by 11 publications

References 0 publications

Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine

Distribution of Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) Mutations in a Cohort of Patients Residing in Palestine

Phenotypic spectrum and genetic heterogeneity of cystic fibrosis in Sri Lanka

Approaching two decades of cystic fibrosis research in Qatar: a historical perspective and future directions

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