| Literature DB >> 30365502 |
Sara Gonçalves, Julie Patat, Maria Clara Guida, Noelle Lachaussée, Christelle Arrondel, Martin Helmstädter, Olivia Boyer, Olivier Gribouval, Marie-Claire Gubler, Geraldine Mollet, Marlène Rio, Marina Charbit, Christine Bole-Feysot, Patrick Nitschke, Tobias B Huber, Patricia G Wheeler, Devon Haynes, Jane Juusola, Thierry Billette de Villemeur, Caroline Nava, Alexandra Afenjar, Boris Keren, Rolf Bodmer, Corinne Antignac, Matias Simons.
Abstract
[This corrects the article DOI: 10.1371/journal.pgen.1007386.].Entities:
Year: 2018 PMID: 30365502 PMCID: PMC6203410 DOI: 10.1371/journal.pgen.1007748
Source DB: PubMed Journal: PLoS Genet ISSN: 1553-7390 Impact factor: 5.917
Fig 4Effect of adducin-αγ E559Q on Drosophila heart function.
(A-C) M-mode of beating 2-week-old control (yw/Df(2R); A), adducin-αγ WT (B) and adducin-αγ E559Q (C) rescue hearts. Scale bar: 1 second. (D-H) High-speed movies of beating adducin-αγ WT, adducin-αγ E559Q rescue and control hearts were analysed using semi-automated Optical Heartbeat Analysis [46]. For quantification, 8–19 flies were analyzed. Statistical analysis was performed using one-way ANOVA and Tukey’s multiple comparison, except for Arrhythmia index (H; n = 8–19, Mann-Whitney-Wilcoxon). For all panels: ns, non significant, ***p<0.001 (See S1 Table for details on transgenic flies).
Fig 5Effect of Gcn5 F304S mutation on Drosophila heart function.
(A-C) M-mode kymographs of 1 day old beating hearts of control flies (yw/Df(3L); A) and Gcn5 flies rescued with Gcn5 WT (B) or Gcn5 F304S (C). Scale bar: 1 second. (D-H) High-speed movies of beating hearts were analysed using semi-automated Optical Heartbeat Analysis [46]. For quantification, 8–19 flies were analyzed. Statistical analysis was performed using one-way ANOVA and Tukey’s multiple comparison for all parameters except arrhythmia index (H), which was analysed using Mann-Whitney-Wilcoxon. For all panels: ns, non significant, *p<0.05 **p<0.01, ***p<0.001, ****p<0.0001 (see S1 Table for details on transgenic flies).
Clinical phenotype of affected individuals.
| Family A | Family B | Family C | Kruer et al7 | ||||
|---|---|---|---|---|---|---|---|
| II-1 | II-3 | II-6 | II-3 | II-4 | II-1 | 4 affected sibs (II-1, II-2, II-3, II-4) | |
| F | F | M | NK | F | M | II-1 and II-3: F II-2 and II-5: M | |
| Yes | Yes | Yes | NK | No | No | No | |
| 7 | 12 | <13 | NA | No proteinuria | No proteinuria | NA | |
| FSGS | FSGS | FSGS | NA | NA | NA | NA | |
| 17 | 27 | 13 | NA | NA | NA | NA | |
| Dilated cardiomyopathy (dx 16 yrs), supra-ventricular arrhythmia (frequent auricular extra-systoles), heart failure | Dilated cardiomyopathy, arrhythmia | Dilated cardiomyopathy (dx 8 yrs), arrhythmia (ventricular hyperexcitation), heart failure | NK | No | No | No | |
| Borderline microcephaly, | CP: -1SD | Borderline microcephaly | Corpus callosum agenesis | Microcephaly (CP: -3SD), moderate intellectual disability, | Microcephaly (CP: -2.4 SD), intellectual disability, | Borderline microcephaly (all sibs), | |
| Congenital bilateral cataract | Congenital bilateral cataract | Bilateral cataract (6 yrs) | NK | Bilateral cataract | No | NK | |
| Mild facial dysmorphy (wide nasal bridge), | Dysmorphic features | Facial dysmorphy (wide nasal bridge, slight proptosis) | NK | mild facial dysmorphy (wide nasal bride, bulbous nasal tip, narrow palpebral fissures) | Facial dysmorphology, | ||
| 19 | TOP | 14 | 8 | 16 (II-1) 13 (II-2) 9(II-3) 3(II-5) | |||
Abbreviations are as follows: CP cephalic perimeter; DD, developmental delay; ESRD, end-stage renal disease; F, female; FSGS, focal segmental glomerulosclerosis; yrs, years; M, male; MRI, magnetic resonance imaging NA, not applicable; NK, not known; SRNS, steroidresistant nephrotic syndrome; SD standard deviation; SS, short stature; TOP, termination of pregnancy; yrs, years; †, deceased