New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II
Abstract
:1. Introduction
2. Results
2.1. Review of the SEC23B Mutational Spectrum
2.2. New CDA II Cases
2.2.1. Family 1. Proband II.1
2.2.2. Family 2. Proband II.1
2.2.3. Family 3. Proband II.1
2.2.4. Family 4. Proband II.1
2.2.5. Family 5. Proband II.1
2.2.6. Family 6. Proband II.1
2.2.7. Family 7. Proband II.1
2.2.8. Family 8. Proband II.1
2.2.9. Family 9. Proband II.1
2.3. Computational Model of p.Thr445Arg, p.Tyr579Cys, and p.Arg701His Variants
2.4. Analysis of SEC23B mRNA and Protein Levels in Patient-Derived LCLs
2.5. Expression Analysis of SEC23A Paralog in Patients’ LCLs
3. Discussion
4. Materials and Methods
4.1. Patients
4.2. DNA Sequencing and Analysis
4.3. Generation of Lymphoblastoid Cell Lines (LCLs)
4.4. RNA Extraction, Reverse Transcription, and qPCR
4.5. Immunoblotting
4.6. Computational Studies
4.7. Statistics
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Prob. | S | Age (Years) | Hb (g/L) | MCV (fL) | RBC (106/μL) | Total Bilirubin (mg/dL) | Dir. Bilirubin (mg/dL) | LDH (UI/dL) | Haptoglobin (mg/dL) | Serum Iron (μg/dL) | Serum Ft (μg/L) | Fetal Hb | Nucleotide Change/Protein |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|
F1-II.1 | F | (a) 15 | (a) N.A. | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | N/A | c.325G>A(p.Glu109Lys); c.1334C>G(p.Thr445Arg) |
(b) 25 | (b) 90 | (b) 96.1 | (b) 3.06 | (b) 3.16 | (b) 0.62 | (b) 242 | (b) <0.3 | (b) 256 | (b) 647 | N/A | |||
F2-II.1 | M | (a) 0 | (a) 85 | (a) 85 | (a) N/A | (a) N/A | (a) 0.46 | (a) 431.2 | (a) N/A | (a) 64 | (a) 525 | (d) 1% | c.1736A>G(p.Tyr579Cys); c.835-2A>G |
(b)12 | (b) N/A | (b) N/A | (b) 3.11 | (b) 4.26 | (b) N/A | (b) N/A | (b) N/A | (b) N/A | (b) N/A | N/A | |||
F3-II.1 | M | (a) 32 | (a) 130 | (a) 91 | (a) 4.29 | (a) 3.03 | (a) 0.51 | (a) 202 | (a) <6 | (a) 156 | (a) 932 | N/A | c.325G>A(p.Glu109Lys); c.1512-3delinsTT + c.1512-16_1512-7delACTCTGGAAT |
(b) 42 | (b) 127 | (b) 90 | (b) 4.15 | (b) 2.656 | (b) N/A | (b) 1.04 | (b) <1 | (b) 144 | (c) 297 | N/A | |||
F4-II.1 | F | (a) 25 | (a) 82 | (a) 90 | (a) 3.50 | (a) 2.92 | (a) 0.87 | (a) N/A | (a) 0.00 | (a) 156.36 | (a) | N/A | c.40C>T(p.Arg14Trp); c.1968T>G(p.Phe656Leu) |
(b) 60 | (b) 122 | (b) 90.1 | (b) 3.85 | (b) 1.07 | (b) N/A | (b) N/A | (b) N/A | (b) 183.17 | (b) 51 | N/A | |||
F5-II.1 | M | (a) 21 | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | (a) N/A | N/A | c.1603C>T(p.Arg535Ter) |
(b) 52 | (b) 127 | (b) 90.6 | (b) 4.20 | (b) 5.9 | (b) 1.2 | (b) 275 | (b) <8 | (b) 158 | (b) 40 | N/A | |||
F6-II.1 | F | (a) 21 | (a) 110 | (a)103 | (a) 3.46 | (a) 3.34 | (a) 0.67 | (a) 129 | (a) 23 | (a) 217 | (a) 242 | N/A | c.325G>A(p.Glu109Lys); c.325G>A(p.Glu109Lys) |
(b) 30 | (b) 113 | (b) 104 | (b) 3.45 | (b) 3.18 | (b) 1.12 | (b) 151 | (b) N/A | (b) 196 | (b) 153 | N/A | |||
F7-II.1 | M | (a) 10 | (a) 833 | (a) 91 | (a) 2.87 | (a) 2.4 | (a) 1.3 | (a) 390 | (a) 38 | (a) 105 | (a) 178 | N/A | c.2074_2077dupGATG(p.Asp693GlyfsTer2) |
(b) 53 | (b) 105 | (b) 98.5 | (b) 3.34 | (b) 3.9 | (b) 0.9 | (b) 176 | (b) N/A | (b) 227 | (b) 469 | N/A | |||
F8-II.1 | F | (a) 8 | (a) 95 | (a) 95 | (a) 2.92 | (a) 4.99 | (a) 0.59 | (a) < 500 | (a) 10 | (a) 67 | (a) 74 | (a) 0.5% | c.325G>A(p.Glu109Lys); c.2102G>A (p.Arg701His) |
(b) 24 | (b) 78 | (b) 106 | (b) 2.13 | (b) 4.82 | (b) 0.45 | (b)167 | (b) | (b) 69 | (b) 659 | N/A | |||
F9-II.1 | M | (a) 9 | (a) 106 | (a) 83 | (a) 3.45 | (a) 2.0 | (a) 0.5 | (a) 430 | (a) 15.2 | (a) 241 | (a) 37.4 | (a) 1.3 | c.40C>T(p.Arg14Trp); c.1512-2A>G |
(b) 24 | (b) 99 | (b) 93.8 | (b) 3.29 | (b) 4.3 | (b) 0.4 | (b) 167 | (b) 56 | (b) 228 | (b) 142 | (b) N/A |
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Musri, M.M.; Venturi, V.; Ferrer-Cortès, X.; Romero-Cortadellas, L.; Hernández, G.; Leoz, P.; Ricard Andrés, M.P.; Morado, M.; Fernández Valle, M.d.C.; Beneitez Pastor, D.; et al. New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II. Int. J. Mol. Sci. 2023, 24, 9935. https://doi.org/10.3390/ijms24129935
Musri MM, Venturi V, Ferrer-Cortès X, Romero-Cortadellas L, Hernández G, Leoz P, Ricard Andrés MP, Morado M, Fernández Valle MdC, Beneitez Pastor D, et al. New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II. International Journal of Molecular Sciences. 2023; 24(12):9935. https://doi.org/10.3390/ijms24129935
Chicago/Turabian StyleMusri, Melina Mara, Veronica Venturi, Xènia Ferrer-Cortès, Lídia Romero-Cortadellas, Gonzalo Hernández, Pilar Leoz, María Pilar Ricard Andrés, Marta Morado, María del Carmen Fernández Valle, David Beneitez Pastor, and et al. 2023. "New Cases and Mutations in SEC23B Gene Causing Congenital Dyserythropoietic Anemia Type II" International Journal of Molecular Sciences 24, no. 12: 9935. https://doi.org/10.3390/ijms24129935