Imperial College London
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DrPaulBarton

Faculty of Medicine, National Heart & Lung Institute

Honorary Senior Research Fellow
 
 
 
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Contact

 

+44 (0)20 7351 8140p.barton Website

 
 
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Location

 

2054Sydney StreetRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{rea:2016:10.1101/mcs.a001271,
author = {rea, G and Homfray, T and Till, J and Roses-Noguer, F and Buchan, RJ and Wilkinson, S and Wilk, A and Walsh, R and John, S and McKee, S and Stewart, FJ and Murday, V and Taylor, RW and Ashworth, M and Baksi, AJ and Daubeney, P and Prasad, S and Barton, PJR and Cook, SA and ware, JS},
doi = {10.1101/mcs.a001271},
journal = {Cold Spring Harbor Molecular Case Studies},
title = {Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11},
url = {http://dx.doi.org/10.1101/mcs.a001271},
volume = {3},
year = {2016}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Variants in NDUFB11, which encodes a structural component of complex I of the mitochondrial respiratory chain (MRC), were recently independently reported to cause histiocytoid cardiomyopathy (histiocytoid CM) and microphthalmia with linear skin defects syndrome (MLS syndrome). Here we report an additional case of histiocytoid CM, which carries a de novo nonsense variant in NDUFB11 (ENST00000276062.8: c.262C > T; p.[Arg88]) identified using whole-exome sequencing (WES) of a family trio. An identical variant has been previously reported in association with MLS syndrome. The case we describe here lacked the diagnostic features of MLS syndrome, but a detailed clinical comparison of the two cases revealed significant phenotypic overlap. Heterozygous variants in HCCS (which encodes an important mitochondrially targeted protein) and COX7B, which, like NDUFB11, encodes a protein of the MRC, have also previously been identified in MLS syndrome including a case with features of both MLS syndrome and histiocytoid CM. However, a systematic review of WES data from previously published histiocytoid CM cases, alongside four additional cases presented here for the first time, did not identify any variants in these genes. We conclude that NDUFB11 variants play a role in the pathogenesis of both histiocytoid CM and MLS and that these disorders are allelic (genetically related).
AU  - rea,G
AU  - Homfray,T
AU  - Till,J
AU  - Roses-Noguer,F
AU  - Buchan,RJ
AU  - Wilkinson,S
AU  - Wilk,A
AU  - Walsh,R
AU  - John,S
AU  - McKee,S
AU  - Stewart,FJ
AU  - Murday,V
AU  - Taylor,RW
AU  - Ashworth,M
AU  - Baksi,AJ
AU  - Daubeney,P
AU  - Prasad,S
AU  - Barton,PJR
AU  - Cook,SA
AU  - ware,JS
DO  - 10.1101/mcs.a001271
PY  - 2016///
SN  - 2373-2873
TI  - Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in NDUFB11
T2  - Cold Spring Harbor Molecular Case Studies
UR  - http://dx.doi.org/10.1101/mcs.a001271
UR  - http://molecularcasestudies.cshlp.org/content/3/1/a001271
UR  - http://hdl.handle.net/10044/1/43473
VL  - 3
ER  -
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