Literature DB >> 27081511

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

Faisal A Al-Allaf1, Mohammad Athar2, Zainularifeen Abduljaleel2, Abdellatif Bouazzaoui2, Mohiuddin M Taher2, Rakan Own3, Ahmad F Al-Allaf4, Iman AbuMansour3, Zohor Azhar3, Faisal A Ba-Hammam3, Hala Abalkhail5, Abdullah Alashwal5.   

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.

Entities:  

Year:  2014        PMID： 27081511      PMCID： PMC4785512          DOI： 10.1038/hgv.2014.21

Source DB:  PubMed          Journal:  Hum Genome Var        ISSN： 2054-345X


  16 in total

1.  A mutation in PCSK9 causing autosomal-dominant hypercholesterolemia in a Utah pedigree.

Authors:  Kirsten M Timms; Susanne Wagner; Mark E Samuels; Kristian Forbey; Howard Goldfine; Srikanth Jammulapati; Mark H Skolnick; Paul N Hopkins; Steve C Hunt; Donna M Shattuck
Journal:  Hum Genet       Date:  2004-01-15       Impact factor: 4.132

Review 2.  Pathogenic or not? And if so, then how? Studying the effects of missense mutations using bioinformatics methods.

Authors:  Janita Thusberg; Mauno Vihinen
Journal:  Hum Mutat       Date:  2009-05       Impact factor: 4.878

3.  A molecular genetic service for diagnosing individuals with familial hypercholesterolaemia (FH) in the United Kingdom.

Authors:  K E Heath; S E Humphries; H Middleton-Price; M Boxer
Journal:  Eur J Hum Genet       Date:  2001-04       Impact factor: 4.246

4.  Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

Authors:  Marianne Abifadel; Mathilde Varret; Jean-Pierre Rabès; Delphine Allard; Khadija Ouguerram; Martine Devillers; Corinne Cruaud; Suzanne Benjannet; Louise Wickham; Danièle Erlich; Aurélie Derré; Ludovic Villéger; Michel Farnier; Isabel Beucler; Eric Bruckert; Jean Chambaz; Bernard Chanu; Jean-Michel Lecerf; Gerald Luc; Philippe Moulin; Jean Weissenbach; Annick Prat; Michel Krempf; Claudine Junien; Nabil G Seidah; Catherine Boileau
Journal:  Nat Genet       Date:  2003-06       Impact factor: 38.330

5.  Estimation of the prevalence of familial hypercholesterolaemia in a rural Afrikaner community by direct screening for three Afrikaner founder low density lipoprotein receptor gene mutations.

Authors:  K Steyn; Y P Goldberg; M J Kotze; M Steyn; A S Swanepoel; J M Fourie; G A Coetzee; D R Van der Westhuyzen
Journal:  Hum Genet       Date:  1996-10       Impact factor: 4.132

6.  LDLR-Gene therapy for familial hypercholesterolaemia: problems, progress, and perspectives.

Authors:  Faisal A Al-Allaf; Charles Coutelle; Simon N Waddington; Anna L David; Richard Harbottle; Michael Themis
Journal:  Int Arch Med       Date:  2010-12-13

7.  Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Authors:  Marie Marduel; Alain Carrié; Agnes Sassolas; Martine Devillers; Valérie Carreau; Mathilde Di Filippo; Danièle Erlich; Marianne Abifadel; Alice Marques-Pinheiro; Arnold Munnich; Claudine Junien; Catherine Boileau; Mathilde Varret; Jean-Pierre Rabès
Journal:  Hum Mutat       Date:  2010-11       Impact factor: 4.878

8.  Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.

Authors:  Haihong Wang; Shengyuan Xu; Liyuan Sun; Xiaodong Pan; Shiwei Yang; Luya Wang
Journal:  PLoS One       Date:  2014-03-26       Impact factor: 3.240

9.  The genetic spectrum of familial hypercholesterolemia in Pakistan.

Authors:  Waqas Ahmed; Ros Whittall; Moeen Riaz; Muhammad Ajmal; Ahmed Sadeque; Humaira Ayub; Raheel Qamar; Steve E Humphries
Journal:  Clin Chim Acta       Date:  2013-03-25       Impact factor: 3.786

10.  Low-density lipoprotein receptor gene familial hypercholesterolemia variant database: update and pathological assessment.

Authors:  Ebele Usifo; Sarah E A Leigh; Ros A Whittall; Nicholas Lench; Alison Taylor; Corin Yeats; Christine A Orengo; Andrew C R Martin; Jacopo Celli; Steve E Humphries
Journal:  Ann Hum Genet       Date:  2012-09       Impact factor: 1.670
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  5 in total

Review 1.  The Spectrum of Familial Hypercholesterolemia (FH) in Saudi Arabia: Prime Time for Patient FH Registry.

Authors:  Faisal Alallaf; Fatima Amanullah H Nazar; Majed Alnefaie; Adel Almaymuni; Omran Mohammed Rashidi; Khalid Alhabib; Fahad Alnouri; Mohamed-Nabil Alama; Mohammad Athar; Zuhier Awan
Journal:  Open Cardiovasc Med J       Date:  2017-07-26

Review 2.  Homozygous Familial Hypercholesterolemia (HoFH) in Saudi Arabia and Two Cases of Lomitapide Use in a Real-World Setting.

Authors:  Moeber Mahzari; Hawazen Zarif
Journal:  Adv Ther       Date:  2021-04-07       Impact factor: 3.845

3.  Saudi Familial Hypercholesterolemia Patients With Rare LDLR Stop Gain Variant Showed Variable Clinical Phenotype and Resistance to Multiple Drug Regimen.

Authors:  Zuhier Ahmed Awan; Omran M Rashidi; Bandar Ali Al-Shehri; Kaiser Jamil; Ramu Elango; Jumana Y Al-Aama; Robert A Hegele; Babajan Banaganapalli; Noor A Shaik
Journal:  Front Med (Lausanne)       Date:  2021-06-25

4.  Xanthomas Can Be Misdiagnosed and Mistreated in Homozygous Familial Hypercholesterolemia Patients: A Call for Increased Awareness Among Dermatologists and Health Care Practitioners.

Authors:  Fahad Alnouri; Faisal A Al-Allaf; Mohammad Athar; Zainularifeen Abduljaleel; Moheeb Alabdullah; Dalal Alammari; Menwar Alanazi; Fahmi Alkaf; Abeer Allehyani; Mohammad A Alotaiby; Abdullah Alshehri; Abdellatif Bouazzaoui; Hussam Karrar; Mohiuddin M Taher
Journal:  Glob Heart       Date:  2020-02-28

5.  Molecular Genetic Approach and Evaluation of Cardiovascular Events in Patients with Clinical Familial Hypercholesterolemia Phenotype from Romania.

Authors:  Cristiana-Elena Vlad; Liliana Georgeta Foia; Roxana Popescu; Ioana Popa; Ruxandra Aanicai; Delia Reurean-Pintilei; Vasilica Toma; Laura Florea; Mehmet Kanbay; Adrian Covic
Journal:  J Clin Med       Date:  2021-03-31       Impact factor: 4.964
  5 in total

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