Correction to: Indian Journal of Hematology and Blood Transfusion https://doi.org/10.1007/s12288-022-01579-1
In the original publication of the article, the columns HGVSc (NM_000129.3) and HGVSp (NP_000120.2) of Table 1 were inadvertently removed from the PDF version of the article.
Table 1.
Details of clinical features, laboratory features, and molecular spectrum of FXIII deficiency
| Cases | Age/Sex | AOP | BAT Score | Clinical Phenotype | UCS | FXIII-A (IU/dL) | Genotype | Depth (X) | Variant Type | Exon/Int | HGVSc (NM_000129.3) | HGVSp (NP_000120.2) | Variant Classification | Domain | rs ID [Reference] |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Case 1 | 50/M | 10 Yrs | 12 | SB + JS + TEB + HT | + ve | 2.1 | Homo | 193 | Deletion | 4 | c.521delG | p.Ser174Ilefs*34 | Pathogenic | β sandwich domain | rs774669729 [8, 11] |
| Case 2* | 2/F | 1st week of birth | 5 | SB + UCB | + ve | 3.8 | Homo | 48 | Deletion | 6 | c.742delA | p.Met248Trpfs*2 | Pathogenic | Core domain | Novel |
| Case 3* | 2/M | 1st week of birth | 4 | UCB + PB | + ve | ND | Homo | 53 | Nonsense | 8 | c.1112G > A | p.Trp371* | Pathogenic | Core domain | Novel |
| Case 4 | 28/M | 1.5 months | 6 | SB + UCB + IMH | N | 6.6 | Homo | 53 | Nonsense | 9 | c.1127G > A | p.Trp376* | Pathogenic | Core domain | [11] |
| Case 5* | 35/M | 20 Yrs | 5 | SB + JS | + ve | ND | Homo | 56 | Nonsense | 9 | c.1127G > A | p.Trp376* | Pathogenic | Core domain | [11] |
| Case 6 | 7/F | 6th day of birth | 6 | SB + OB + UCB | + ve | ND | Homo | 78 | Nonsense | 9 | c.1127G > A | p.Trp376* | Pathogenic | Core domain | [11] |
| Case 7 | 7/M | 9th day of birth | 9 | SB + HT + UCB | + ve | 0.7 | Homo | 56 | Missense | 10 | c.1226G > A | p.Arg409Gln | Likely Pathogenic | Core domain | rs532879106 [5, 10, 11, 19] |
| Case 8 | 4/F | 11th day of birth | 14 | SB + UCB | + ve | 0.6 | Homo | 44 | Deletion | 11 | c.1405_1408delCAAA | p.Gln469Leufs*6 | Pathogenic | Core domain | [6] |
| Case 9 | 51/M | 1st week of birth | 11 | GI-MA + GU + UCB + ICB | + ve | 6.1 | Homo | 125 | Splice site | 14 | c.2045G > A | p.Arg682His | Likely Pathogenic | β barrel-2 domain | rs121913064 [5, 7–11] |
| Case 10 | 21/F | 2 Yrs | 4 | PB for 9 days | + ve | ND | C. Het | 27 | Splice site | 14 | c.2045G > A | p.Arg682His | Pathogenic | β barrel-2 domain | rs121913064 [5, 7–11] |
| 27 | Splice site | Int 13 | c.1909-1G > C | Pathogenic | Pathogenic | Novel | |||||||||
| Case 11# | 8/M | 2nd day of birth | 16 | IMH + SB + HU + IA/R + UCB | + ve | 0.9 | C. Het | 33 | Missense | 15 | c.2134A > C | p.Ser712Arg | Likely Pathogenic | β barrel-2 domain | Novel |
| 98 | Missense | 5 | c.631G > C | p.Gly211Arg | Likely Pathogenic | Core domain | rs1205172031 [7] | ||||||||
| Case 12 | 2 months/M | 2 months | 5 | EP | Inc | 37.3 | Het | 32 | Missense | 8 | c.998C > T | p.Ala333Val | VUS | Core domain | rs759294043 |
| Case 13 | 67/F | 42 Yrs | 2 | SB + JB + MN | N | 49.5 | No pathogenic variant was found | ||||||||
| Case 14 | 24/F | 13 Yrs | 3 | GI-MA + MN | N | 22.5 | |||||||||
| Case 15 | 70/M | 67 Yrs | 2 | SB + GI-MA | + ve | 40.1 | |||||||||
| Case 16 | 32/F | 30 Yrs | 1 | RA + SB | + ve | ND | |||||||||
AOP Age of Presentation, BAT ISTH Bleeding Assessment Tool, EP epistaxis, F female; FXIII-A Antigen Assay Normal range (50–150 IU/dL), GI-MA Gastrointestinal malaena, GU Genitourinary bleed, HU Hematuria, HT Hematoma, IA/R Intraabdominal/Retroperitoneal, ICB Intracranial Bleed, Inc Inconclusive, IMH Intramuscular hematoma, Int Intron, JS Joint Swelling, M Male, MN Menorrhagia, N Normal, ND Not Done, OB Oral Bleed, PB Prolonged wound bleeding, RA Recurrent Abortions, SB Skin Bleed, TEB Tooth extraction bleed, UCB Umbilical cord bleed, VUS Variant of Uncertain Significance, + ve Positive, *- Positive family history, #- consanguineous family. In all solved cases, pathogenic/likely pathogenic variants were identified in F13A1 gene.
The correct Table 1 is given below:
The original article has been corrected.
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