Imperial College London
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DrSantoshAtanur

Faculty of Medicine, National Heart & Lung Institute

Honorary Lecturer
 
 
 
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Contact

 

+44 (0)20 7594 2739santosh.atanur

 
 
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Location

 

ICTEM buildingHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Thomas:2013:10.1002/mgg3.17,
author = {Thomas, ERA and Atanur, SS and Norsworthy, PJ and Encheva, V and Snijders, AP and Game, L and Vandrovcova, J and Siddiq, A and Seed, M and Soutar, AK and Aitman, TJ},
doi = {10.1002/mgg3.17},
journal = {Molecular Genetics and Genomic Medicine},
pages = {155--161},
title = {Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.},
url = {http://dx.doi.org/10.1002/mgg3.17},
volume = {1},
year = {2013}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Patients with autosomal dominant hypercholesterolemia (ADH) have a high risk of developing cardiovascular disease that can be effectively treated using statin drugs. Molecular diagnosis and family cascade screening is recommended for early identification of individuals at risk, but up to 40% of families have no mutation detected in known genes. This study combined linkage analysis and exome sequencing to identify a novel variant in exon 3 of APOB (Arg50Trp). Mass spectrometry established that low-density lipoprotein (LDL) containing Arg50Trp APOB accumulates in the circulation of affected individuals, suggesting defective hepatic uptake. Previously reported mutations in APOB causing ADH have been located in exon 26. This is the first report of a mutation outside this region causing this phenotype, therefore, more extensive screening of this large and highly polymorphic gene may be necessary in ADH families. This is now feasible due to the high capacity of recently available sequencing platforms.
AU  - Thomas,ERA
AU  - Atanur,SS
AU  - Norsworthy,PJ
AU  - Encheva,V
AU  - Snijders,AP
AU  - Game,L
AU  - Vandrovcova,J
AU  - Siddiq,A
AU  - Seed,M
AU  - Soutar,AK
AU  - Aitman,TJ
DO  - 10.1002/mgg3.17
EP  - 161
PY  - 2013///
SN  - 2324-9269
SP  - 155
TI  - Identification and biochemical analysis of a novel APOB mutation that causes autosomal dominant hypercholesterolemia.
T2  - Molecular Genetics and Genomic Medicine
UR  - http://dx.doi.org/10.1002/mgg3.17
UR  - https://www.ncbi.nlm.nih.gov/pubmed/24498611
UR  - https://onlinelibrary.wiley.com/doi/10.1002/mgg3.17
UR  - http://hdl.handle.net/10044/1/93261
VL  - 1
ER  -
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