Mutational spectrum of cystic fibrosis in the Lebanese population

Farra, Chantal; Menassa, Rita; Awwad, Johnny; Morel, Yves; Salameh, Pascale; Yazbeck, Nadine; Majdalani, Marianne; Wakim, Rima Hanna; Yunis, Khalid; Mroueh, Salman; Cabet, F.

doi:10.1016/j.jcf.2010.08.001

Cited by 37 publications

(52 citation statements)

References 28 publications

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“…Moreover, consanguinity is still on the rise and is associated with a high frequency of genetic diseases among Arabs . Similarly, consanguinity was found to be high among CF patients in several Arab countries, for example, in 50% of CF patients in Lebanon, 50% in Egypt and Algeria and 54.3% in Kuwait . In Qatar, the consanguinity rate is reportedly approximately 98% among 26 related Arab Bedouin families with CF, 88% in Saudi Arabia and 77% in Bahrain .…”

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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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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“…Likewise the Àa 4.2 single gene deletion which is commonly reported in Arab countries was absent in our population [2,15,30]. A possible explanation to the disparity between our results and those reported from other Arab studies may be due to the heterogeneous backgrounds of our families in contrast to the more pure Arab homogenous background [34].…”

Section: Resultsmentioning

confidence: 99%

Alpha thalassemia allelic frequency in Lebanon

Farra

Badra

Fares

et al. 2014

Pediatric Blood & Cancer

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“…However, the highest frequency is reported from a Middle Eastern study in 2010. Farra et al revealed its occurrence to be 27% in Lebanon. As a result, many countries included this mutation to their neonatal screening programs.…”

Section: Discussionmentioning

confidence: 99%

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul

Atağ

İkizoğlu

Ergenekon

et al. 2019

Pediatric Pulmonology

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Background Cystic fibrosis (CF) genotyping has garnered increased attention since the discovery of the cystic fibrosis transmembrane conductance regulator (CFTR) gene in 1989 led to the identification of over 1700 mutations on chromosome 7. Yet, little is known about the genetic profile of CF patients in Turkey. This study sought to determine the mutation distribution among CF patients seeking care at Marmara University. Methods Two hundred fifty previously diagnosed CF patients were included in the study. CFTR gene exons 1 to 27 were amplified by a polymerase chain reaction and whole DNA sequencing was performed. Duplications and deletions were investigated by the multiplex ligation‐dependent probe amplification (MLPA) technique in patients with one or two unidentified mutations in sequence analysis. Results CFTR mutation analysis revealed 80 mutations and five large deletions were present in our study population. The five most common mutations were (delta) F508 (c.1521‐1523delCTT) (28.4%), 1677delTA (c.1545‐1546delTA) (6.4%), 2789 + 5G‐ > A (c.2657 + 5G > A) (5.8%), N1303K (c.3909C > G) (2.4%), and c.2183AA‐ > G (c.2051‐2052delAAinsG) (4.0%). Large deletions were found in 16 patients. Four novel mutations and two novel deletions were detected in this study. Conclusions We have identified four novel mutations and two novel deletions using next‐generation DNA sequencing and the MLPA technique and obtained an overall mutation detection rate of 91.4%. Detection of novel variants in CF patients will assist in genetic counseling and in determining appropriate patients for new therapies.

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Mutational spectrum of cystic fibrosis in the Lebanese population

Abstract: The most common CFTR mutations in addition to five mutations not previously described in the Lebanese population were identified. Identification of CFTR mutations in the Lebanese population is important for molecular investigations and genetic counseling.

Cited by 37 publications

References 28 publications

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

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

Alpha thalassemia allelic frequency in Lebanon

Novel mutations and deletions in cystic fibrosis in a tertiary cystic fibrosis center in Istanbul

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