In the Abstract, there is an error in the sixth sentence. The correct sentence is: The inheritance of RYR2 mutations was significantly more frequent from mothers (n = 12, 34.3%) than fathers (n = 2, 7.4%) (P = 0.015). In the Origin of the mutations subsection of the Results, there is a similar error in the second sentence of the second paragraph. The correct sentence is: The frequency of mutations originating from mothers was significantly higher than that from fathers (P = 0.015).
There are several errors in the Location of mutations subsection of the Results. The correct paragraph is: Among 12 mutations inherited from mothers, seven (58.3%) were located in the N-terminus, while only four (23.5%) from 17 de novo mutations were located in the N-terminus (Table 1). Regarding four de novo N-terminal mutations, three were at residue 169. In contrast, two maternal mutations (16.7%) were located in the central domain and two (16.7%) were located in the C-terminus. One mother carried two mutations in the Central and C-terminus.
Table 1. Clinical and genetic summaries of probands.
Patient Number | Sex | Age | Most severe symptom | RYR2 mutation | Genotyped Family Members | Inheritance | Phenotype of parents | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
Genetic Analysis | Onset | Nucleotide | Amino Acids | Location | |||||||
Father | Mother | ||||||||||
1 | F | 17 | 16 | syncope | exon 3 deletion | N57_G91del35 | NT | Trio | Maternal | none | AF |
2 | F | 11 | 9 | syncope | exon 3 deletion | N57_G91del35 | NT | P-M | Maternal | none | syncope |
3 | F | 9 | 9 | syncope | 506g>t | R169L | NT | Trio | de novo | none | none |
4 | F | 5 | 5 | CPA | 506g>a | R169Q | NT | Trio | de novo | none | none |
5 | F | 9 | 8 | CPA | 506g>a | R169Q | NT | Trio | de novo | none | none |
6 | M | 16 | 12 | CPA | 533g>c | G178A | NT | Trio | de novo | none | none |
7 | M | 13 | 11 | syncope | 1221a>t | R407S | NT | P-M | de novo or F | none | none |
8 | F | 12 | 7 | CPA | 1259g>a | R420Q | NT | P-M | Maternal | none | syncope |
9 | M | 3 | 3 | syncope | 3667a>g | T1223A | NT | Trio | Maternal | none | none |
10 | F | 11 | 5 | syncope | 3766c>a | P1256T | NT | Trio | Maternal | none | none |
11 | F | 15 | 12 | syncope | 4552c>t | L1518F | NT | Trio | Maternal | none | none |
12 | F | 25 | 10 | syncope | 5170g>a | E1724K | NT | P-M | Maternal | none | syncope |
13 | M | 13 | 13 | CPA | 6574a>t | M2192L | Central | Trio | Maternal | none | none |
14 | M | 13 | 13 | CPA | 6737c>t | S2246L | Central | Trio | de novo | none | none |
15 | M | 14 | 11 | syncope | 7024g>a | G2342R | Central | Trio | Paternal (mosaic) | none | none |
16 | M | 11 | 10 | CPA | 7169c>t | T2390I | Central | Trio | Paternal | none | none |
17 | M | 15 | 10 | CPA | 7199g>t | G2400V | Central | Trio | de novo | none | none |
18 | M | 12 | 12 | CPA | 7423g>t | V2475F | Central | P-M | de novo or P | none | none |
19 | F | 18 | 8 | CPA | 11583g>c | Q3861H | Central | Trio | de novo | none | none |
20 | F | 8 | 8 | syncope | 11583g>t | Q3861H | Central | Trio | de novo | none | none |
21 | F | 27 | 6 | syncope | 11836g>a | G3946S | Central | P-M | de novo or P | none | none |
22 | F | 16 | 6 | syncope | 11836g>a | G3946S | Central | Trio | de novo | none | none |
23 | F | 28 | 28 | CPA | 11917g>a | D3973N | Central | Trio | Maternal | none | none |
24 | M | 3 | 3 | syncope | 12006g>a | M4002I | Central | Trio | de novo | none | none |
25 | M | 11 | 9 | syncope | 12371 g>a | S4124N | CT | P-M | Maternal | none | none |
26 | M | 11 | 11 | CPA | 12458g>t | S4153I | CT | P-F | de novo or M | none | SD |
27 | M | 11 | 2 | syncope | 12533a>g | N4178S | CT | Trio | de novo | none | none |
28 | F | 6 | 6 | CPA | 12579c>g | C4193W | CT | Trio | de novo | none | none |
29 | M | 10 | 10 | syncope | 13463a>c | Q4488P | CT | Trio | de novo | none | none |
30 | F | 33 | 9 | syncope | 13798t>c | F4600L | CT | Trio | de novo | none | none |
31 | M | 28 | 10 | syncope | 14174a>g | Y4725C | CT | Trio | de novo | none | none |
32 | F | 23 | 9 | syncope | 14311g>a | V4771I | CT | P-M | Maternal | none | syncope |
33 | M | 13 | 13 | CPA | 14311g>a | V4771I | CT | P-M | de novo or P | none | none |
34 | M | 17 | 14 | CPA | 14806c>a | Q4936K | CT | Trio | de novo | none | none |
35 | M | 5 | 5 | CPA | 14834_14835insTCA | 4944_4945insH | CT | Trio | de novo | none | none |
36 | M | 12 | 12 | CPA | 9910c>g, 14222c>t | Q3304E, A4741V | Central and CT | Trio | Maternal | none | syncope |
CPA; cardiac pulmonary arrest, NT; N-terminal, CT; C-terminal, SD; sudden death
In the Ages of parents at birth of probands subsection of the Results, the P value of the age difference in fathers between de novo and paternal is incorrectly reported as 0.019. The correct P value is 0.037.
There are errors in Table 1 and Table 2. Please see the correct tables here.
Table 2. Clinical characteristics of probands with de novo or maternal mutations.
de novo | Maternal | |
---|---|---|
n = 17 | n = 12 | |
Male n (%) | 9 (52.9) | 4 (33.3) |
Mean age of Onset | 8.1±3.3 | 11.0±6.4 |
CPA n (%) | 9 (52.9) | 4 (33.3) |
Syncope n (%) | 8 (47.1) | 8 (66.7) |
There are errors in Fig 1 and Fig 3. Please see the correct figures here.
Reference
- 1.Ohno S, Hasegawa K, Horie M (2015) Gender Differences in the Inheritance Mode of RYR2 Mutations in Catecholaminergic Polymorphic Ventricular Tachycardia Patients. PLoS ONE 10(6): e0131517 10.1371/journal.pone.0131517 [DOI] [PMC free article] [PubMed] [Google Scholar]