Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

Banjar, Hanaa; Al-Mogarri, Ibrahim; Nizami, Imran; Alhaider, Sami; Almaghamsi, Talal; AlKaf, Sara; Alenazi, Abdulaziz; Moghrabi, Nabil

doi:10.1016/j.ijpam.2019.12.002

Cited by 12 publications

(18 citation statements)

References 18 publications

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“…Consanguineous marriage was prominent in these two regions that needed the implementation of a premarital counselling program [48]. The high rates of familial intermarriages in the eastern and northern regions is an important factor that has led to the areas sustaining the high incidence of CFTR variants among the carriers.…”

Section: Prevalence and Geographical Distribution Among Saudi Arabiamentioning

confidence: 99%

Insights into National Laboratory Newborn Screening and Future Prospects

Mujamammi

2022

Medicina

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Newborn screening (NBS) is a group of tests that check all newborns for certain rare conditions, covering several genetic or metabolic disorders. The laboratory NBS is performed through blood testing. However, the conditions that newborn babies are screened for vary from one country to another. Since NBS began in the 1960s, technological advances have enabled its expansion to include an increasing number of disorders, and there is a national trend to further expand the NBS program. The use of mass spectrometry (MS) for the diagnosis of inborn errors of metabolism (IEM) obviously helps in the expansion of the screening panels. This technology allows the detection of different metabolic disorders at one run, replacing the use of traditional techniques. Analysis of the targeted pathogenic gene variant is a routine application in the molecular techniques for the NBS program as a confirmatory testing to the positive laboratory screening results. Recently, a lot of molecular investigations, such as next generation sequencing (NGS), have been introduced in the routine NBS program. Nowadays, NGS techniques are widely used in the diagnosis of IMD where its results are rapid, confirmed and reliable, but, due to its uncertainties and the nature of IEM, it necessitates a holistic approach for diagnosis. However, various characteristics found in NGS make it a potentially powerful tool for NBS. A range of disorders can be analyzed with a single assay directly, and samples can reduce costs and can largely be automated. For the implementation of a robust technology such as NGS in a mass NBS program, the main focus should not be just technologically biased; it should also be tested for its long- and short-term impact on the family and the child. The crucial question here is whether large-scale genomic sequencing can provide useful medical information beyond what current NBS is already providing and at what economical and emotional cost? Currently, the topic of newborn genome sequencing as a public health initiative remains argumentative. Thus, this article seeks the answer to the question: NGS for newborn screening- are we there yet?

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Section: Prevalence and Geographical Distribution Among Saudi Arabiamentioning

confidence: 99%

Insights into National Laboratory Newborn Screening and Future Prospects

Mujamammi

2022

Medicina

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“…The mean age at CF diagnosis has increased compared to a previous study in 1998 (3.46 ±5.5 years VS 33 ± 40 months), which could be explained due to the increasing CF diagnosis during adult age groups [25][26]. The median survival of 22 years is markedly improved compared to 8 years in 1984 as per our registry data (Fig-1) [1,25,26]. This finding indicates the improvement in medical care and the awareness improvement of physicians and medical staff.…”

Section: Discussionmentioning

confidence: 60%

“…Our findings showed consistently similar results in all demographic data as the previous report from our center with a smaller CF population [24] as the following: more females have CF than males; however, the difference was not significant. The majority of patients are Arabian, predominantly Saudi citizens residing in the Eastern province [25,26]. The mean age at CF diagnosis has increased compared to a previous study in 1998 (3.46 ±5.5 years VS 33 ± 40 months), which could be explained due to the increasing CF diagnosis during adult age groups [25][26].…”

Section: Discussionmentioning

confidence: 76%

“…The majority of patients are Arabian, predominantly Saudi citizens residing in the Eastern province [25,26]. The mean age at CF diagnosis has increased compared to a previous study in 1998 (3.46 ±5.5 years VS 33 ± 40 months), which could be explained due to the increasing CF diagnosis during adult age groups [25][26]. The median survival of 22 years is markedly improved compared to 8 years in 1984 as per our registry data (Fig-1) [1,25,26].…”

Section: Discussionmentioning

confidence: 99%

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Demographic Data of Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia

Banjar

Kadan

Al-Abdaly

et al. 2020

Asp J Pediatrics Child Health

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Introduction: Cystic Fibrosis has been reported before in almost all Arab countries with an incidence ranges from 1:2500- 1:7000. Presentations varied, but mainly due to recurrent chest infection and Pancreatic Insufficiency. Median survival has been far below North American countries. Delayed diagnosis and delayed management account for the low median survival. Objectives: To present the demographic data of Cystic Fibrosis patients and their families, that involves their social status and education. Methodology: A retrospective chart review as part of the Cystic Fibrosis registry data from the period January 1998 to December 2018. All confirmed CF patients of all age groups who contributed their demographic information were included and analyzed. Results: A total of 430 confirmed Cystic Fibrosis patients. 236 (96%) patients survived, and 10 (4%) died. Two hundred and thirteen (49.5%) were males, and 217 (50.5%) were females. Eighty-three percent consanguinity rate. Forty-five had a family history of Cystic Fibrosis, and the diagnosis was suggested by family history in 9.5% of patients. 415 (98.1%) were of Saudi nationality. 156 (36.5%) were from the Eastern province. The mean age at diagnosis was 3.46 years (SD±5.547). Median survival around 22 years. Mean Sweat chloride was 92.04 mmol/ L (17.343). In reviewing the educational level of 247 patients, the level of elementary school accounted for 90 (36.1%) of patients, 24 (9.7%) of mothers, and 21 (8.5%) of fathers. Similarly, 43 (17.4%)/ 22 (8.9%)/ 102 (41.3%) were in the preparatory level, 35 (14.3%)/ 43 (17.4%)/ 51 (20.6%) were in the high school level, and 23 (9.3%)/ 39 (15.8%)/ 46 (18.6%) were in the college level, respectively. Regarding the employment: 145 (58.7%) patients are students, 3 (1.2%) are part-time employees, and 15 (6.0%) are full time employees. 207 (83.8%) mothers are housewives, 2 (0.8%) are students, and 29 (11.7%) have full-time employment. Paternal employment showed that 210 (85.0%) are full time, and 7 (2.8%) are part-time employees. Regarding their accommodation: 77 (31.2%) of Cystic Fibrosis parents owned a villa, 81 (32.8%) rented an apartment, and 79 (32%) owned their own apartment. Conclusion: More than 2/3 of CF patients are students at the elementary school level, and only 6.0% have a full-time job, which makes them completely dependent on both parents for their care. Median survival improved from 8 years in 1984 to 22 years. Further efforts need to be applied to different aspects of care to further improve median survival.

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“…Patients who had been enrolled in another clinical study in the past 30 days, unable or unwilling to provide informed consent, or had been diagnosed with conditions other than CF were excluded from this study. The CFTR gene mutation analysis, DNA isolation, polymerase chain reaction (PCR) amplification of genomic DNA, mutational analysis, and sequencing methods were previously described …”

Section: Methodsmentioning

confidence: 99%

Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function

Buzatto

Jabar

Nizami³

et al. 2020

J. Proteome Res.

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Cystic fibrosis is a genetic pathology characterized by abnormal accumulation of mucus in the respiratory, gastrointestinal, and reproductive tracts, caused by mutations in the CFTR gene. Although the classical presentation of the condition is well known, there is still a need for a better characterization of metabolic alterations related to cystic fibrosis and different genotypic mutations. We employed untargeted, comprehensive lipidomics of blood serum samples to investigate alterations in the lipid metabolism related to the pathology, mutation classes, and lung function decline. Six unique biomarker candidates were able to independently differentiate diseased individuals from healthy controls with excellent performance. Cystic fibrosis patients showed dyslipidemia for most lipid subclasses, with significantly elevated odd-chain and polyunsaturated fatty acyl lipids. Phosphatidic acids and diacylglycerols were particularly affected by different genotypic mutation classes. We selected a biomarker panel composed of four lipids, including two ceramides, one sphingomyelin, and one fatty acid, which correctly classified all validation samples from classes III and IV. A biomarker panel of five oxidized lipids was further selected to differentiate patients with reduced lung function, measured as predicted FEV1%. Our results indicate that cystic fibrosis is deeply related to lipid metabolism and provide new clues for the investigation of the disease mechanisms and therapeutic targets.

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Geographic distribution of cystic fibrosis transmembrane conductance regulator (CFTR) gene mutations in Saudi Arabia

Cited by 12 publications

References 18 publications

Insights into National Laboratory Newborn Screening and Future Prospects

Insights into National Laboratory Newborn Screening and Future Prospects

Demographic Data of Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia

Lipidome Alterations Induced by Cystic Fibrosis, CFTR Mutation, and Lung Function

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