Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review
Abstract
:1. Introduction
2. Materials and Methods
2.1. Multiplex Ligation-Dependent Probe Amplification
2.2. Targeted Panel Sequencing
3. Results
4. Discussion
5. Conclusions
Supplementary Materials
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Acknowledgments
Conflicts of Interest
References
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Parameters | Results | Normal Range | Parameters | Results | Normal Range |
---|---|---|---|---|---|
BMI (kg/m2) | 25.7 | 18.5–25 | Albumin (g/dL) | 4.6 | 3.5–5.2 |
WBC (×103/μL) | 7.29 | 4.0–10.0 | Total Bilirubin (mg/dL) | 0.89 | 0–1.2 |
RBC (×106/μL) | 5.02 | 4.2–6.3 | ALP (IU/L) | 117 | 35–130 |
Hemoglobin (g/dL) | 15.5 | 13.0–17.0 | AST (IU/L) | 32 | 0–37 |
Platelet (×103/μL) | 197 | 130–400 | ALT (IU/L) | 26 | 0–41 |
BUN (mg/dL) | 9.8 | 6–20 | γ–GT (IU/L) | 43 | 6–71 |
Creatinine (mg/dL) | 0.18 | 0.6–1.2 | LDH (IU/L) | 203 | 135–225 |
Ca (mg/dL) | 9.4 | 8.6–10.2 | Creatine kinase (IU/L) | 352 | 50–250 |
P (mg/dL) | 2.8 | 2.7–4.5 | Triglyceride (mg/dL) | 127 | 0–200 |
Uric acid (mg/dL) | 5.6 | 3.4–7.0 | Cholesterol (mg/dL) | 115 | 120–220 |
Glucose (mg/dL) | 109 | 70–110 | HDL (mg/dL) | 41 | 35–75 |
HbA1c (%) | 5.1 | 4.2–5.9 | LDL (mg/dL) | 62 | 0–130 |
Base Change | Codon Change | Reported VAF | rsID | gnomAD | KRGDB | References |
---|---|---|---|---|---|---|
c.75del | p.Ala26Argfs * 6 | 1 | N/A | 0 | 0 | [9] |
c.313dup | p.Leu105Profs * 43 | 1 | N/A | 0 | 0 | [9] |
c.610C > T | p.Arg204 * | 1 | rs373585652 | 0.000007953 | [9] | |
c.663 + 1G > C | Splicing error | 19 | rs398123800 | 0.000003978 | 0.000455 | [8,9,10,11] |
c.675G > T | p.Gln225His | 1 | N/A | 0 | 0 | [8] |
c.757C > T | p.Arg253Trp | 1 | rs149827237 | 0.0001233 | [8] | |
c.823del | p.Glu276Serfs * 12 | 2 | N/A | 0 | 0 | [8,11] |
c.845T > C | p.Ile282Thr | 3 | N/A | 0 | 0 | [8,9] |
c.895G > A | p.Gly299Arg | 1 | rs121908963 | 0.00003186 * | [9] | |
c.937 + 1G > A | Splicing error | 5 | rs201869739 | 0.00003579 | [9,10,11] | |
c.938-1G > A | Splicing error | 1 | N/A | 0 | 0 | [9] |
c.1053T > G | p.(=) | 1 | rs199955501 | 0.0002864 | [8] | |
c.1129C > T | p.Arg377 * | 2 | rs758180890 | 0.00002387 | [9,10] | |
c.1165G > C | p.Glu389Gln | 3 | N/A | 0 | 0 | [6,8] |
c.1284 + 2T > C | Splicing error | 20 | rs398123765 | 0.00001596 | 0 | [8,9,10,11] |
c.1464del | p.Gly489Glufs *4 | 5 | N/A | 0 | 0 | [8,9,10] |
c.1579G > T | p.Gly527Cys | 1 | N/A | 0 | 0 | [8] |
c.1646del | p.Gly549Valfs * 78 | 1 | N/A | 0 | 0 | [11] |
c.1663C > T | p.Arg555Trp | 1 | rs377735262 | 0.00002916 | 0 | [12] |
c.1665G > C | p.(=) | 1 | N/A | 0 | 0 | [11] |
c.2248C > T | p.Gln750 * | 1 | N/A | 0 | 0 | [8] |
c.2494C > T | p.Gln832 * | 28 | rs199543257 | 0.00001988 | 0.000455 | [7,8,9,10,11] |
c.2964C > A | p.Cys988 * | 1 | N/A | 0 | 0 | [8] |
c.2974T > C | p.Trp992Arg | 3 | rs750028300 | 0.000003976 | 0.000455 | [7,9,10] |
c.2997G > T | p.Trp999Cys | 11 | rs28937581 | 0.00001193 | 0.001818 | [7,8,9,10,11] [12] |
c.3032-1G > A | Splicing error | 2 | N/A | 0 | 0 | [8] |
c.3102C > G | p.Tyr1034 * | 1 | N/A | 0 | 0 | [9] |
c.3113G > A | p.Arg1038Gln | 2 | rs150877497 | 0.00005186 | [8,11] | |
c.3275G > A | p.Arg1092His | 2 | rs758284713 | 0.00009168 | [8] | |
c.3276_3281dup | p.Arg1093_Trp1094insCysArg | 1 | rs758284713 | 0.000003986 | [9] | |
c.3289C > T | p.Arg1097Cys | 1 | rs147483765 | 0.0003622 | [8] | |
c.3307A > T | p.Lys1103 * | 1 | N/A | 0 | 0 | [7] |
c.3407del | p.Gly1136Valfs * 2 | 2 | rs778088008 | 0.000003976 | [8,9] | |
c.3875_3880del | p.Val1292_Gln1293del | 1 | N/A | 0 | 0 | [9] |
c.4200dup | p.Ile1401Hisfs * 8 | 1 | N/A | 0 | 0 | [7] |
c.4434G > A | p.Trp1478 * | 1 | rs766016391 | 0.000004045 | [8] | |
c.4742G > A | p.Arg1581His | 1 | rs185596534 | 0.0005567 | [8] | |
c.4795-2A > G | Splicing error | 1 | N/A | 0 | 0 | [8] |
c.5078G > A | p.Arg1693Gln | 2 | rs779987458 | 0.000008007 | [8,10] | |
c.5090G > C | p.Arg1697Pro | 1 | rs777701226 | 0.00002806 | [8] | |
c.5095T > C | p.Ser1699Pro | 1 | N/A | 0 | 0 | [8] |
c.5287G > A | p.Glu1763Lys | 1 | N/A | 0 | 0 | [10] |
c.5607dup | p.Arg1870Glufs * 12 | 2 | N/A | 0 | 0 | [8,9] |
c.5776C > T | p.Gln1926 * | 1 | N/A | 0 | 0 | [9] |
c.5804C > T | p.Pro1935Leu | 1 | rs1254719758 | 0.00003185 | [10] | |
c.5911T > C | p.Cys1971Arg | 1 | N/A | 0 | 0 | [8] |
c.5939T > A | p.Ile1980Lys | 1 | N/A | 0 | 0 | [9] |
c.6057-2A > C | Splicing error | 2 | N/A | 0 | 0 | [11] |
c.6096C > G | p.Tyr2032 * | 1 | rs1012723902 | 0.000003976 | [8] |
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Park, J.; Moon, Y.J.; Kim, D.S. Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review. Genes 2023, 14, 200. https://doi.org/10.3390/genes14010200
Park J, Moon YJ, Kim DS. Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review. Genes. 2023; 14(1):200. https://doi.org/10.3390/genes14010200
Chicago/Turabian StylePark, Joonhong, Young Jae Moon, and Dal Sik Kim. 2023. "Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review" Genes 14, no. 1: 200. https://doi.org/10.3390/genes14010200
APA StylePark, J., Moon, Y. J., & Kim, D. S. (2023). Miyoshi Muscular Dystrophy Type 1 with Mutated DYSF Gene Misdiagnosed as Becker Muscular Dystrophy: A Case Report and Literature Review. Genes, 14(1), 200. https://doi.org/10.3390/genes14010200