Literature DB >> 30365502

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

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


The legends for Figs 4 and 5 do not match. The legend that is shown for Fig 4 should be for Fig 5, and the legend that is shown for Fig 5 should be for Fig 4.
Fig 4

Effect 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 5

Effect 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).

Effect 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).

Effect 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). Consequently, the seventh sentence under the subheading “KAT2B F307S but not ADD3 E659Q causes cardiac defects in Drosophila” is incorrect. The correct sentence is: Both Gcn5 WT and F304S rescue flies showed a reduction in the normal diastolic diameter compared to control flies (Fig 5F), but only for Gcn5 F304S there was a reduction in contractility, measured as fractional shortening (Fig 5G). In addition, there are formatting inaccuracies in Table 1. Please see the correct Table 1 here.
Table 1

Clinical phenotype of affected individuals.

Family AFamily BFamily CKruer et al7
II-1II-3II-6II-3II-4II-14 affected sibs (II-1, II-2, II-3, II-4)
SexFFMNKFMII-1 and II-3: F II-2 and II-5: M
SRNSYesYesYesNKNoNoNo
Age of onset of proteinuria (yrs)712<13NANo proteinuriaNo proteinuriaNA
Renal histologyFSGSFSGSFSGSNANANANA
Age of ESRD (yrs)172713NANANANA
Heart diseaseDilated cardiomyopathy (dx 16 yrs), supra-ventricular arrhythmia (frequent auricular extra-systoles), heart failureDilated cardiomyopathy, arrhythmiaDilated cardiomyopathy (dx 8 yrs), arrhythmia (ventricular hyperexcitation), heart failureNKNoNoNo
Neurological featuresBorderline microcephaly,Intellectual disability,MRI: aspects of global demyelination,axonal demyelinating motor-sensory neuropathyCP: -1SDIntellectual disabilityBorderline microcephaly(CP: -2SD),Intellectual disability,MRI: thin corpus callosumCorpus callosum agenesisMicrocephaly (CP: -3SD), moderate intellectual disability,MRI: partial agenesis of corpus callosumMicrocephaly (CP: -2.4 SD), intellectual disability,intractable seizures,MRI: possible cortical dysplasiaBorderline microcephaly (all sibs),mild to severe intellectual disability (all sibs),spastic plegia (all sibs),thin corpus callosum (II-2),supranuclear gaze palsy (II-2),epilepsy (II-2),convergence-retraction nystagmus and strabismus (II-5),strabismus (II-3)
CataractCongenital bilateral cataractCongenital bilateral cataractBilateral cataract (6 yrs)NKBilateral cataractNoNK
Other featuresMild facial dysmorphy (wide nasal bridge),arachnodactyly, lax joints, cubitus valgus, scoliosis,short statureDysmorphic features(similar to the two brothers)Facial dysmorphy (wide nasal bridge, slight proptosis)arachnodactyly, short 4th and 5th metatarsals, conical phalanges,lax joints, cubitus valgus, scoliosis, spread iliac wings, short femural neck,microcytic anemiaNKmild facial dysmorphy (wide nasal bride, bulbous nasal tip, narrow palpebral fissures)fifth finger mid-phalanx hypoplasia, short 4th and 5th metatarsals,short statureFacial dysmorphology,short stature
Age at last examination vs age (yrs) 19 2819TOP14816 (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

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
  1 in total

1.  A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Authors:  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
Journal:  PLoS Genet       Date:  2018-05-16       Impact factor: 5.917

  1 in total

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