Histiocytoid cardiomyopathy and microphthalmia with linear skin defects syndrome: phenotypes linked by truncating variants in <i>NDUFB11</i>

Rea, Gillian; Homfray, Tessa; Till, Jan; Rosés‐Noguer, Ferran; Buchan, Rachel; Wilkinson, S.; Wilk, Alicja; Walsh, Roddy; John, Shibu; McKee, Shane; Stewart, Fiona; Murday, Victoria; Taylor, Robert W.; Ashworth, Michael; Baksi, A John; Daubeney, Piers E.F.; Prasad, Sanjay K.; Barton, Paul J.R.; Cook, Stuart A.; Ware, James S.

doi:10.1101/mcs.a001271

Cited by 22 publications

(10 citation statements)

References 19 publications

(42 reference statements)

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“…She died at six months of age from cardiac arrest. This mutation was also identified in a later study [76]. Patient 2 was heterozygous for an inherited one base-pair deletion, c.402delG in exon 3, that caused a p.Arg134Ser mutation and changed Val136 to a premature stop codon.…”

Section: Ndufb11mentioning

confidence: 78%

Analysis of Human Mutations in the Supernumerary Subunits of Complex I

Dang

Phan

Johnson

et al. 2020

Life

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Complex I is the largest member of the electron transport chain in human mitochondria. It comprises 45 subunits and requires at least 15 assembly factors. The subunits can be divided into 14 “core” subunits that carry out oxidation–reduction reactions and proton translocation, as well as 31 additional supernumerary (or accessory) subunits whose functions are less well known. Diminished levels of complex I activity are seen in many mitochondrial disease states. This review seeks to tabulate mutations in the supernumerary subunits of humans that appear to cause disease. Mutations in 20 of the supernumerary subunits have been identified. The mutations were analyzed in light of the tertiary and quaternary structure of human complex I (PDB id = 5xtd). Mutations were found that might disrupt the folding of that subunit or that would weaken binding to another subunit. In some cases, it appeared that no protein was made or, at least, could not be detected. A very common outcome is the lack of assembly of complex I when supernumerary subunits are mutated or missing. We suggest that poor assembly is the result of disrupting the large network of subunit interactions that the supernumerary subunits typically engage in.

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Section: Ndufb11mentioning

confidence: 78%

Analysis of Human Mutations in the Supernumerary Subunits of Complex I

Dang

Phan

Johnson

et al. 2020

Life

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“…Clinically, it is characterized by severe cardiac arrhythmias including WPW syndrome, VT, and/or VF, dilated cardiomyopathy, cardiac arrest, and sudden death. Extra-cardiac features involving the nervous system and eyes have also been reported 4–7 . DUFB11 variants have recently been independently proposed to cause histiocytoid cardiomyopathy.…”

Section: Discussionmentioning

confidence: 98%

Successful catheter ablation of premature ventricular contractions triggering torsade de pointes in a small infant with histiocytoid cardiomyopathy: a case report

Hirano

Aoki

Ichikawa

et al. 2019

European Heart Journal - Case Reports

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Background A short-coupled variant of torsade de pointes (ScTdP) is rare and resistant to medical treatment. There has not been a reported catheter ablation (CA) of a short-coupled premature ventricular contraction (PVC) triggering ScTdP in an infant. Case summary A neonate was referred to our hospital on the day of birth for Wolff–Parkinson–White syndrome, repeated episodes of supraventricular tachycardia, and a left ventricular non-compaction. She underwent CA of an accessory pathway at 72 days of age. On the 5th day after ablation, she had recurrent TdP episodes resistant to various antiarrhythmic drugs and received extracorporeal membrane oxygenation at 86 days of age. She underwent CA of PVCs triggering TdP at 122 days of age and a weight of 3.4 kg. Two types of PVCs triggering TdP were successfully ablated, which originated from the right ventricle (RV). Pre-potentials were recorded at the earliest ventricular activation sites of the targeted PVCs. After the ablation, she had no TdP episodes and the cardiac assist device was removed. However, she died of uncontrolled heart failure at 6 months of age. The histological findings were compatible with histiocytoid cardiomyopathy and abnormal cells were distributed throughout both ventricles. At the ablation site, fibrotic transmural lesions were noted in the RV wall. Discussion The PVCs triggering TdP were successfully ablated in a 4-month-old girl with histiocytoid cardiomyopathy. The PVCs were likely caused by triggered activity and associated with abnormal Purkinje cells.

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“…Dotyka ona zazwyczaj dzieci, częściej dziewczynek, chociaż została także opisana u dorosłych [26]. Objawia się zaburzeniami rytmu serca i nagłym zgonem sercowym [27] oraz może współistnieć z LVNC [26,27].…”

Section: Obraz Klinicznyunclassified