Show simple item record

AuthorAl-Sadeq, Duaa
AuthorAbunada, Taghreed
AuthorDalloul, Rajaa
AuthorFahad, Sara
AuthorTaleb, Sara
AuthorAljassim, Kholoud
AuthorAl Hamed, Fatima Alzahra
AuthorZayed, Hatem
Available date2018-12-19T05:25:53Z
Publication Date2018-11
Publication NameRespirologyen_US
Identifierhttp://dx.doi.org/10.1111/resp.13437
CitationAl‐Sadeq D, Abunada T, Dalloul R, Fahad S, Taleb S, Aljassim K, Al Hamed FA, Zayed H. Spectrum of mutations of cystic fibrosis in the 22 Arab countries: a systematic review. Respirology 2018; https://doi.org/10.1111/resp.13437.
URIhttp://hdl.handle.net/10576/11211
AbstractCystic 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.
Languageen
PublisherWiley
SubjectArab country
SubjectCFTR
Subjectcystic fibrosis
Subjectepidemiology
Subjectgenotype-phenotype correlation
TitleSpectrum of mutations of cystic fibrosis in the 22 Arab countries: A systematic review.
TypeArticle
Pagination1-10


Files in this item

Thumbnail

This item appears in the following Collection(s)

Show simple item record