title: Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia.
abstract: Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor (LDLR) gene. Here, we describe two severely affected FH patients who were resistant to statin therapy and were managed on an apheresis program. We identified a novel duplication variant c.1332dup, p.(D445*) at exon 9 and a known silent variant c.1413A>G, p.(=), rs5930, NM_001195798.1 at exon 10 of the LDLR gene in both patients.
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia; Molecular Diagnostics Unit, Department of Laboratory and Blood Bank, King Abdullah Medical City, Makkah, Saudi Arabia.
authors.forename: Faisal A
authors.identifier: 0000-0001-8430-3532
authors.initials: FA
authors.lastname: Al-Allaf
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia.
authors.forename: Mohammad
authors.initials: M
authors.lastname: Athar
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia.
authors.forename: Zainularifeen
authors.initials: Z
authors.lastname: Abduljaleel
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia.
authors.forename: Abdellatif
authors.initials: A
authors.lastname: Bouazzaoui
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University, Makkah, Saudi Arabia; Science and Technology Unit, Umm Al-Qura University, Makkah, Saudi Arabia.
authors.forename: Mohiuddin M
authors.initials: MM
authors.lastname: Taher
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia.
authors.forename: Rakan
authors.initials: R
authors.lastname: Own
authors.affiliation: College of Medicine, Alfaisal University , Riyadh, Saudi Arabia.
authors.forename: Ahmad F
authors.initials: AF
authors.lastname: Al-Allaf
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia.
authors.forename: Iman
authors.initials: I
authors.lastname: AbuMansour
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia.
authors.forename: Zohor
authors.initials: Z
authors.lastname: Azhar
authors.affiliation: Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia.
authors.forename: Faisal A
authors.initials: FA
authors.lastname: Ba-Hammam
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Centre , Riyadh, Saudi Arabia.
authors.forename: Hala
authors.initials: H
authors.lastname: Abalkhail
authors.affiliation: Department of Pediatrics, King Faisal Specialist Hospital and Research Centre , Riyadh, Saudi Arabia.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Alashwal