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Title: Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases
Authors: Nair, Pratibha
Sabbagh, Sandra
Mansour, Hicham
Fawaz, Ali
Hmaimess, Ghassan
Noun, Peter
Dagher, Rawane
Megarbane, Hala
Hana, Sayeeda
Alame, Saada
Lamaa, Maher
Hasbini, Dana
Farah, Roula
Rajab, Mariam
Stora, Samantha
El-Tourjuman, Oulfat
Abou Jaoude, Pauline
Chalouhi, Gihad
Sayad, Rony
Gillart, Anne-Celine
Al-Ali, Mahmoud
Delague, Valerie
El-Hayek, Stephany
Mégarbané, André
Affiliations: Faculty of Medicine 
Keywords: Consanguinity
Whole exome sequencing
Issue Date: 2018
Publisher: National Library of Medicine
Part of: Molecular Genetics and Genomic Medicine
Volume: 6
Issue: 6
Start page: 1041
End page: 1052
According to the Catalogue of Transmission Genetics in Arabs, less than half of diseases reported in Lebanese patients are mapped. In the recent years, Next Generation Sequencing (NGS) techniques have significantly improved clinical diagnosis, compared to traditional sequencing methods.

A total of 213 analyses by NGS (167 by whole exome sequencing (WES) and 46 by multigene panels tests) were performed on pediatric patients across different regions of Lebanon over a period of two years (December 2015–December 2017).

Neurological disorders were the most frequent referral demand for both WES and gene panels (122/213). Pathogenic, likely pathogenic, or variants of unknown significance were identified in 69.5% of the WES and panel patients combined. Over half of the patients with such variants had an autosomal recessive disorder. A definite molecular diagnosis (pathogenic or likely pathogenic variants) was achieved in 34.1% and 47.8% of the patients studied by WES and the multigene panels, respectively. Thirty‐three novel variants were found in the cases that were molecularly solved; 26 of these being identified by WES and seven by the multigene panels. In three consanguineous families, autosomal recessive inheritance of genes previously reported as showing dominant inheritance patterns were found. Biallelism was found in six cases, digenism in four cases, and one case was trigenic.

Our study thus suggests that NGS tools are valuable for an improved clinical diagnosis, and highlights that the increased adoption of such techniques will significantly further improve our understanding of the genetic basis of inherited diseases in Lebanon.
DOI: 10.1002/mgg3.480
Open URL: Link to full text
Type: Journal Article
Appears in Collections:Faculty of Medicine

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