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Thrombosis Journal

, 17:5 | Cite as

Correction to: Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population

  • Arshi NazEmail author
  • Arijit Biswas
  • Tehmina Nafees Khan
  • Anne Goodeve
  • Nisar Ahmed
  • Nazish Saqlain
  • Shariq Ahmed
  • Ikram Din Ujjan
  • Tahir S. Shamsi
  • Johannes Oldenburg
Open Access
Correction
  • 91 Downloads

Correction to: Thromb J (2017) 15:24

https://doi.org/10.1186/s12959-017-0143-3

Following the publication of this article [1], the authors noted the following typographical errors:
  1. 1)

    Affiliation 3 should read “University of Sheffield, Sheffield, United Kingdom” and Affiliations 6, 7, 8 and 9 were unnecessary duplicates

     
  2. 2)

    In the abstract the sentence “Ten patients had mutations in FGA followed by three mutations in FGB and three mutations in FGG, respectively” should be “Ten patients had mutations in FGA followed by four mutations in FGB and two mutations in FGG, respectively.”

     
  3. 3)

    In the Results section the following three sentences:

     

“In FGA gene, eight mutations were identified as novel and the remaining two were reported mutations. Eight novel mutations include five missense, one nonsense and two frameshift mutations including homozygous and a compound heterozygous frameshift mutation. The two nonsense mutations in FGA are reported in literature. There is one more mutation with reported status in proband (C3). This patient had compound heterozygous mutation with frameshift as novel mutation and nonsense as reported. We identified three mutations in FGB including one novel missense mutation (C9) and two homozygous nonsense mutations reported in siblings. The FGG gene mutations are the rarest of all three fibrinogen genes. We detected three novel mutations including two similar nonsense mutations in siblings and one frameshift mutation in unrelated proband in different exons of FGG gene (Table 1).”

Should be:

“In FGA gene, seven mutations were identified as novel and the remaining three were reported mutations. Seven novel mutations include five missense and two frameshift mutations including homozygous and a compound heterozygous frameshift mutation. The three nonsense mutations in FGA are reported in literature. There is one more mutation with reported status in proband (C3). This patient had compound heterozygous mutation with frameshift as novel mutation and nonsense as reported. We identified four mutations in FGB including one novel missense mutation (C9), two homozygous nonsense mutations reported in siblings and one frameshift mutation(C12). The FGG gene mutations are the rarest of all three fibrinogen genes. We detected two novel similar nonsense mutations in siblings (Table 1).”
  1. 4)

    There are a number of errors in Tables 1 and 2. The corrected versions are provided in this Correction article with the corrections given in bold.

     
  2. 5)

    Frameshift mutation (p.Gln282Thr fsx83*) and (p. Lys (AAA) 48Arg fs9*) are the novel compound heterozygous mutations which have manifested deletions along with frameshift defects” should in fact read “Frameshift mutations (p.Thr283Arg fs138*) and (p. Lys (AAA) 48Arg fs9*) are the novel compound heterozygous mutations which have manifested deletions along with frameshift defects.

     
Table 1

Genotypic expression of mutations in fibrinogen gene (FGA, FGB & FGG)

IP #

Gene

Exon

Mutation

Amino Acid change

Zygosity

Mutation type

Reported/Novel

C1

FGA

1

c.24C > A

p.Cys8*

Homozygous

Nonsense

Ref #23

C2

2

c.143_144 del AA

p.Lys (AAA)48Arg fs9*

Compound Heterozygous

Frame shift

Novel mutation

C3

5

c.846delG

p.Thr 283Arg fs138*

Compound Heterozygous

Frame shift

Novel mutation

4

c.385C > T

p.Arg129*

Homozygous

Nonsense

Ref #24

C4

4

c.385 C > T

p.Arg129*

Homozygous

Nonsense

Ref #24

C5

5

c.598C > T

p.Gln200*

Homozygous

Nonsense

Ref 27*

C6

5

c.904C > G

p.Pro302Ala

Homozygous

Missense

Novel mutation

C7

5

c.913A > G

p.Thr 305 Ala

Homozygous

Missense

Novel mutation

C8

5

c.992A > G

p.Thr331Ala

Homozygous

Missense

Novel mutation

C9i

5

c.992A > G

p.Thr331Ala

Homozygous

Missense

Novel mutation

C10

5

c.973A > G

p.Ser325Gly

Homozygous

Missense

Novel mutation

C11A

FGB

2

c.141 > T

p.Arg47*

Homozygous

Nonsense

Ref # 25

C11B

2

c.141C > T

p.Arg47*

Homozygous

Nonsense

Ref # 25

C9 ii

8

c.1294T > A

p.Trp 432Arg

Homozygous

Missense

Novel mutation

C12

2

c.118_124dupTTCTTCA

TTCTTCA

Homozygous

Frame shift

Novel mutation

C13A

FGG

4

c.361A > T

p.Lys121*

Homozygous

Nonsense

Novel mutation

C13B

4

c.361A > T

Lys121*

Homozygous

Nonsense

Novel mutation

Identified novel and reported mutations in three genes of fibrinogen. The letter A and B with patient code designate the sibling status, i & ii shows mutation identified in same patient but in different genes, € (repor`ted mutation) c (complimentary deoxyribonucleic acid), A (adenine), T (thymine), C (cytosine), G (guanine), Lys (lysine), Arg (arginine), Tyr (tyrosine), Pro (proline), Trp (tryptophan), Thr (threonine), Gln (glycine), Cys = cystine, fs = frame shift, * stop codon number, FGA (fibrinogen Aα-chain gene), FGB (fibrinogen Bβ-chain gene), FGG (fibrinogen GƔ-chain gene.

Table 2

Assessment of coagulation markers and bleeding scores with consanguinity/ethnicity

IP#

Fibrinogen Level

(g/l)

Thrombin Time

(Sec)

Prothrombin Time

(Sec)

Activated partial thromboplastin Time (aPTT) (Sec)

Bleeding Score

Consanguinity

Interfamilial Relation

Ethnic Origin

*C1

0.01

23

> 120

> 180

20

positive

Unrelated

NA

C2

0.02

24

> 120

> 180

21

positive

Unrelated

Punjabi

C3

0

33

> 120

> 180

22

positive

Unrelated

Punjabi

C4

0.1

24

> 120

> 180

17

positive

Unrelated

Urdu Speaking

C5

0.02

31

> 120

> 180

20

positive

Unrelated

Sindhi

C6

0.01

25

> 120

> 180

20

positive

Unrelated

Urdu speaking

C7

0.02

29

> 120

> 180

22

positive

Unrelated

Sindhi

C8

0.0

30

> 120

> 180

20

positive

Unrelated

Sindhi

C9

0.0

32

> 120

> 180

22

positive

Unrelated

Punjabi

C10

0.01

25

> 120

> 180

16

positive

Unrelated

Punjabi

C11A

0.02

28

> 120

> 180

18

positive

**

Punjabi

C11B

0.01

24

> 120

> 180

16

positive

Punjabi

C12

0.0

30

> 120

> 180

21

positive

Unrelated

Punjabi

C13A

0.02

24

> 120

> 180

20

positive

**

Punjabi

C13B

0.01

25

> 120

> 180

21

positive

Punjabi

Shows the individual test values of PT, aPTT and fibrinogen (Clauss Method), consanguinity and the relationship status. Bleeding score calculated, Tosetto et al [26]. ** Siblings, NA = not available, s (seconds). The fibrinogen levels in all patients were found to be equal to or lower than 0 .1g/l (Normal Range 2-4 g/dl), PT more than 120 s (Normal Range 9–11 s) aPTT more than 180 s (Normal Range 24–27 s) and prolonged thrombin time (normal range 10–13 s). Ethnicity explains the frequency of majorly affected, thickly populated and largest province of Pakistan (Punjab).

Reference

  1. 1.
    Naz A, et al. Identification of novel mutations in congenital afibrinogenemia patients and molecular modeling of missense mutations in Pakistani population. Thromb J. 2017;15:24.  https://doi.org/10.1186/s12959-017-0143-3.CrossRefPubMedPubMedCentralGoogle Scholar

Copyright information

© The Author(s). 2019

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

Authors and Affiliations

  • Arshi Naz
    • 1
    Email author
  • Arijit Biswas
    • 2
  • Tehmina Nafees Khan
    • 1
  • Anne Goodeve
    • 3
  • Nisar Ahmed
    • 4
  • Nazish Saqlain
    • 4
  • Shariq Ahmed
    • 1
  • Ikram Din Ujjan
    • 5
  • Tahir S. Shamsi
    • 1
  • Johannes Oldenburg
    • 2
  1. 1.National Institute of Blood Diseases and Bone Marrow TransplantationKarachiPakistan
  2. 2.Institute of Experimental Hematology and Transfusion MedicineBonnGermany
  3. 3.University of SheffieldSheffieldUK
  4. 4.Children’s HospitalLahorePakistan
  5. 5.Liaquat university of medical and health sciencesJamshoroPakistan

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