Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

Faisal A Al-Allaf; Mohammad Athar; Zainularifeen Abduljaleel; Abdellatif Bouazzaoui; Mohiuddin M Taher; Rakan Own; Ahmad F Al-Allaf; Iman AbuMansour; Zohor Azhar; Faisal A Ba-Hammam; Hala Abalkhail; Abdullah Alashwal

doi:10.1038/hgv.2014.21

Identification of a novel nonsense variant c.1332dup, p.(D445*) in the LDLR gene that causes familial hypercholesterolemia

Hum Genome Var. 2014 Nov 20:1:14021. doi: 10.1038/hgv.2014.21. eCollection 2014.

Affiliations

¹ 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.
² 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.
³ Department of Medical Genetics, Faculty of Medicine, Umm Al-Qura University , Makkah, Saudi Arabia.
⁴ College of Medicine, Alfaisal University , Riyadh, Saudi Arabia.
⁵ Department of Pediatrics, King Faisal Specialist Hospital and Research Centre , Riyadh, Saudi Arabia.

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.