CFTR mutational screening by next‐generation sequencing reveals novel variants and a high carrier rate in a Middle Eastern population

Cystic fibrosis is the most common life‐limiting autosomal recessive disease in western countries with an incidence of 1:2500 in United States and 1:1000 in some European countries. Similar incidences were noted for the Middle East with variations from 1 in 2560 to 1 in 15,876 according to the degre...

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Bibliographic Details
Published in:	Annals of human genetics Vol. 86; no. 2; pp. 80 - 86
Main Authors:	Farra, Chantal, Awwad, Johnny, Hamadeh, Lama, Khoueiry, Pierre, Halawi, Zeina, Yazbeck, Nadine, Daher, Rose, Souaid, Mirna, Hamdar, Layal, Yammine, Tony, Yunis, Khalid
Format:	Journal Article
Language:	English
Published:	England Wiley Subscription Services, Inc 01-03-2022
Subjects:	CFTR variants Consanguinity Cystic fibrosis Lebanon Neonates Next Generation Sequencing Pathogenicity Lebanon Cystic fibrosis CFTR variants Next Generation Sequencing
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Summary:	Cystic fibrosis is the most common life‐limiting autosomal recessive disease in western countries with an incidence of 1:2500 in United States and 1:1000 in some European countries. Similar incidences were noted for the Middle East with variations from 1 in 2560 to 1 in 15,876 according to the degree of consanguinity. This is a preliminary systematic study that aims to assess the incidence and carrier rate of cystic fibrosis in the Middle Eastern Lebanese population; known for a high frequency of consanguinity. One hundred thirteen DNA samples were collected from neonatal blood cards obtained from newborns to healthy unrelated families with no previous history of Cystic fibrosis. Screening for Cystic Fibrosis‐causing pathogenic variants was performed using next generation sequencing, and 17 different single nucleotide variants were detected, including six pathogenic and likely pathogenic. 5.5%–7% newborns were found to be carriers of a variant strongly suggestive of pathogenicity and comparable to published literature worldwide. This pilot analysis highlights the challenging interpretation of CFTR variants in a country underrepresented by large ethnic population analyses, and stresses the importance of premarital screening programs for Cystic fibrosis.
Bibliography:	Correction added on 20 December 2021, after first online publication: the surnames and names have been switched for all the authors in this version. ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	0003-4800 1469-1809
DOI:	10.1111/ahg.12450