Clinical and Laboratory Observations: PDF OnlyClinical and Genetic Features of Patients With Fanconi Anemia in Lebanon and Report on Novel Mutations in the FANCA and FANCG GenesFarah, Roula A. MD*,†; Nair, Pratibha MSc‡; Koueik, Jack MD†; Yammine, Tony MS§; Khalifeh, Hassan MD∥; Korban, Rima MS§; Collet, Agnes MD¶; Khayat, Claudia MD#; Dubois-Denghien, Catherine MS**; Chouery, Eliane PhD††; Blanluet, Maud PharmD**; El-Hayek, Stephany PhD‡; Stoppa-Lyonnet, Dominique MD, PhD**; Megarbane, Andre MD, PhD‡‡,§§Author Information *Department of Pediatrics, Lebanese American University Medical Center-Rizk Hospital †Balamand University §Unite de génétique Medicale, Universite Saint Joseph ∥Rafic Hariri Hospital #Hotel Dieu de France Hospital ††Medical School, Lebanese American University ‡‡Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon ‡Centre for Arab Genomic Studies, Dubai, United Arab Emirates ¶Laboratoires Reunis, Grand Duchy, Luxembourg **Laboratoire de génétique constitutionnelle, Institut Curie §§Institut Jérôme Lejeune, Paris, France The authors declare no conflict of interest. Reprints: Andre Megarbane, MD, PhD, Institut Jerome Lejeune, 32, Rue des Volontaires, Paris 75015, France (e-mail: [email protected]). Received April 12, 2020 Accepted July 13, 2020 Journal of Pediatric Hematology/Oncology: September 17, 2020 - Volume Publish Ahead of Print - Issue - doi: 10.1097/MPH.0000000000001909 Buy PAP Metrics Abstract Fanconi anemia (FA) is the most common inherited bone marrow failure syndrome and presents with cytopenias, characteristic physical features, increased chromosomal breaks, and a higher risk of malignancy. Genetic features of this disease vary among different ethnic groups. We aimed to identify the incidence, outcome, overall condition, and genetic features of patients affected with FA in Lebanon to optimize management, identify the most common genes, describe new mutations, and offer prenatal diagnosis and counseling to the affected families. Over a period of 17 years, 40 patients with FA were identified in 2 major diagnostic laboratories in Lebanon. Information was obtained on their clinical course and outcome from their primary physician. DNA was available in 20 patients and was studied for underlying mutations. FANCA seemed to be the most frequent genetic alteration and 2 novel mutations, one each in FANCA and FANCG, were identified. Nine patients developed various malignancies and died. This is the first study looking at clinical and genetic features of FA in Lebanon, and points to the need for establishing a national and regional registry for this condition. Copyright © 2021 Wolters Kluwer Health, Inc. All rights reserved.