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

Chantal Farra; Johnny Awwad; Lama HamadehPierre KhoueiryZeina HalawiNadine YazbeckRose DaherMirna SouaidLayal HamdarTony YammineKhalid Yunis

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

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

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Abstract 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.

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来源
《Annals of Human Genetics》 |2022年第2期|80-86|共7页
作者
Chantal Farra; Johnny Awwad; Lama HamadehPierre KhoueiryZeina HalawiNadine YazbeckRose DaherMirna SouaidLayal HamdarTony YammineKhalid Yunis;
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作者单位

Department of Pediatrics,American University of Beirut Medical Center;

Department of Obstetrics and Gynecology,American University of Beirut Medical Center;

Medical Genetics Unit, Department of pathology and Laboratory Medicine,American University ofDepartment of Biochemistry and Molecular Genetics,American University of Beirut Medical CenterMedical Genetics Unit,Saint Joseph University;

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正文语种英语
中图分类医学遗传学;
关键词
CFTR variants; Cystic fibrosis; Lebanon; Next Generation Sequencing;

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

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