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.
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 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) | |
Sex | F | F | M | NK | F | M | II-1 and II-3: F II-2 and II-5: M |
SRNS | Yes | Yes | Yes | NK | No | No | No |
Age of onset of proteinuria (yrs) | 7 | 12 | <13 | NA | No proteinuria | No proteinuria | NA |
Renal histology | FSGS | FSGS | FSGS | NA | NA | NA | NA |
Age of ESRD (yrs) | 17 | 27 | 13 | NA | NA | NA | NA |
Heart disease | 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 |
Neurological features | Borderline microcephaly, Intellectual disability, MRI: aspects of global demyelination, axonal demyelinating motor-sensory neuropathy |
CP: -1SD Intellectual disability |
Borderline microcephaly (CP: -2SD), Intellectual disability, MRI: thin corpus callosum |
Corpus callosum agenesis | Microcephaly (CP: -3SD), moderate intellectual disability, MRI: partial agenesis of corpus callosum |
Microcephaly (CP: -2.4 SD), intellectual disability, intractable seizures, MRI: possible cortical dysplasia |
Borderline 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) |
Cataract | Congenital bilateral cataract | Congenital bilateral cataract | Bilateral cataract (6 yrs) | NK | Bilateral cataract | No | NK |
Other features | Mild facial dysmorphy (wide nasal bridge), arachnodactyly, lax joints, cubitus valgus, scoliosis, short stature |
Dysmorphic 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 anemia |
NK | mild facial dysmorphy (wide nasal bride, bulbous nasal tip, narrow palpebral fissures) fifth finger mid-phalanx hypoplasia, short 4th and 5th metatarsals, short stature |
Facial dysmorphology, short stature |
|
Age at last examination vs † age (yrs) | † 19 | † 28 | 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
Reference
- 1.Gonçalves S, Patat J, Guida MC, Lachaussée N, Arrondel C, Helmstädter M, et al. (2018) A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies. PLoS Genet 14(5): e1007386 10.1371/journal.pgen.100738 [DOI] [PMC free article] [PubMed] [Google Scholar]