Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention
Abstract
:1. Introduction
2. Results
2.1. Patient Demographic Characteristics
2.2. Age of Onset, RUs, and CSS
2.3. Comparison of Clinical Data Between the Two Groups
2.4. Association Between FSHD Severity DNA Methylation
3. Discussion
4. Materials and Methods
4.1. Patients
4.2. Clinical and Functional Evaluation
4.3. Genetic Testing/Methylation Profile Analysis
4.4. Statistical Analyses
Author Contributions
Funding
Acknowledgments
Conflicts of Interest
Abbreviations
ABDUL | Left Upper Limb Abduction |
ABDUL | Right Upper Abduction |
ANTEL | Left Upper Limb Anterior Flexion |
ANTER | Right Upper Limb Flexion |
CSS | Clinical Severity Score |
FSHD | Muscular Facioscapulohumeral Dystrophy |
IC | Index case |
MFM | Motor Function Measure |
RU | Repeat Unit |
SMMT | Mini Motor Test Sum |
References
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6–8 RUs (n = 74) | 9–10 RUs (n = 25) | Z | p | |
---|---|---|---|---|
Adjusted SMMT | 0.67 (0.32–1.07) | 0.52 (0.28–0.99) | −0.38 | 0.70 |
CSS | 2.5 (1.4–3.5) | 2.5 (1.0–3.3) | −0.51 | 0.61 |
Brooke | 2 (1–3) | 2 (1–2.75) | −0.09 | 0.93 |
Gardner | 2 (0–3) | 1 (0–2) | −1.37 | 0.17 |
Brooke/Gardner sum-score | 4 (2–5) | 3 (2–4) | −1.2 | 0.23 |
MFM score | 92.5 (81.5–99) | 95.5 (86.25–98) | −0.56 | 0.58 |
Time to Walk 10 m | 7 (6–11) | 8 (6–9.75) | −0.34 | 0.74 |
Time to climb 4 steps | 3 (2–5) | 3.5 (2–7) | −023 | 0.82 |
Time of Barré (s) | 60 (30–143) | 92 (30–150) | −99 | 0.32 |
Time of Mingazzini (s) | 60 (26.25–124.75) | 75 (60–132) | −1.6 | 0.12 |
ABDUR | 90 (80–180) | 120 (80–180) | −0.64 | 0.52 |
ABDUL | 90 (80–180) | 170 (75–180) | −0.41 | 0.68 |
ANTER | 110 (88.75–180) | 120 (75–180) | −0.12 | 0.92 |
ANTEL | 110 (90–180) | 170 (75–180) | −0.47 | 0.64 |
Percentage of Methylation | Percentage of Hypomethylation | ||||||||
---|---|---|---|---|---|---|---|---|---|
DR1 | 5P | Mid | 3P | DR1 | 5P | Mid | 3P | ||
SMMT | r | −0.31 | −0.26 | −0.35 | −0.33 | 0.27 | 0.31 | 0.21 | 0.30 |
p | 0.12 | 0.12 | 0.08 | 0.10 | 0.18 | 0.12 | 0.30 | 0.14 | |
CSS | r | −0.47 | −.042 | −0.51 | −0.43 | 0.42 | 0.31 | 0.23 | 0.29 |
p | 0.01 | 0.03 | 0.01 | 0.03 | 0.03 | 0.12 | 0.26 | 0.14 | |
Brooke | r | −0.22 | −0.15 | −0.21 | −0.12 | 0.15 | 0.09 | −0.06 | 0 |
p | 0.26 | 0.45 | 0.29 | 0.55 | 0.45 | 0.65 | 0.78 | 0.99 | |
Gardner | r | −0.37 | −0.29 | −0.37 | −0.34 | 0.33 | 0.18 | 0.17 | 0.2 |
p | 0.06 | 0.15 | 0.06 | 0.08 | 0.09 | 0.38 | 0.39 | 0.31 | |
Time to Walk 10 m | r | −0.04 | 0.1 | −0.16 | −0.1 | −0.07 | −0.08 | 0.17 | 0.09 |
p | 0.86 | 0.63 | 0.42 | 0.63 | 0.74 | 0.7 | 0.4 | 0.67 | |
Time to climb 4 steps | r | −0.04 | 0.08 | −0.03 | −0.02 | −0.08 | 0 | 0.3 | 0.23 |
p | 0.86 | 0.71 | 0.89 | 0.93 | 0.72 | 0.99 | 0.15 | 0.27 | |
Time of Barré | r | 0.48 | 0.46 | 0.5 | 0.39 | −0.52 | −0.08 | −0.33 | −0.01 |
p | 0.01 | 0.02 | 0.01 | 0.05 | 0.01 | 0.7 | 0.1 | 0.95 | |
Time of Mingazzini | r | 0.19 | 0.17 | 0.17 | 0.17 | −0.22 | −0.26 | −0.22 | −0.07 |
p | 0.39 | 0.44 | 0.44 | 0.44 | 0.31 | 0.23 | 0.32 | 0.74 | |
ABDUR | r | 0.01 | 0 | 0.05 | 0.13 | 0.04 | 0.03 | 0.15 | 0.02 |
p | 0.95 | 0.99 | 0.8 | 0.54 | 0.86 | 0.89 | 0.48 | 0.92 | |
ABDUL | r | 0.06 | 0.08 | 0.06 | 0.24 | −0.09 | −0.14 | −0.04 | −0.28 |
p | 0.78 | 0.7 | 0.75 | 0.25 | 0.66 | 0.48 | 0.86 | 0.16 | |
ANTER | r | 0.12 | 0.09 | 0.15 | 0.3 | −0.06 | −0.01 | 0 | −0.19 |
p | 0.57 | 0.66 | 0.47 | 0.14 | 0.76 | 0.97 | 0.99 | 0.36 | |
ANTEL | r | 0.14 | 0.13 | 0.12 | 0.34 | −0.14 | −0.16 | −0.18 | −0.47 |
p | 0.51 | 0.54 | 0.54 | 0.09 | 0.48 | 0.44 | 0.38 | 0.02 |
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Salort-Campana, E.; Fatehi, F.; Beloribi-Djefaflia, S.; Roche, S.; Nguyen, K.; Bernard, R.; Cintas, P.; Solé, G.; Bouhour, F.; Ollagnon, E.; et al. Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention. Int. J. Mol. Sci. 2020, 21, 2221. https://doi.org/10.3390/ijms21062221
Salort-Campana E, Fatehi F, Beloribi-Djefaflia S, Roche S, Nguyen K, Bernard R, Cintas P, Solé G, Bouhour F, Ollagnon E, et al. Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention. International Journal of Molecular Sciences. 2020; 21(6):2221. https://doi.org/10.3390/ijms21062221
Chicago/Turabian StyleSalort-Campana, Emmanuelle, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, and et al. 2020. "Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention" International Journal of Molecular Sciences 21, no. 6: 2221. https://doi.org/10.3390/ijms21062221