Key result
Shorter EcoRI fragment size (fewer D4Z4 repeats) was inversely correlated with age-corrected clinical severity in symptomatic patients (r = -0.279, P < 0.01), though significant phenotypic variability remained.
Cohort (n=315)
No
Effect estimate: r = -0.279
p-value: p=<0.01
The size of the D4Z4 repeat contraction roughly correlates with clinical severity in Chinese FSHD patients, but significant phenotypic variability suggests other modifying factors are involved, complicating genetic counseling.
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Highlights need for caution in FSHD genetic counseling due to variability; leaves open the role of additional modifiers in Chinese cohorts.
Feng et al. (2015) conducted a cohort in Facioscapulohumeral muscular dystrophy (n=315). Short EcoRI fragment size (D4Z4 repeat contraction) was evaluated on Correlation between short EcoRI fragment size and age-corrected clinical severity score (r = -0.279, p=<0.01). Shorter EcoRI fragment size (fewer D4Z4 repeats) was inversely correlated with age-corrected clinical severity in symptomatic patients (r = -0.279, P < 0.01), though significant phenotypic variability remained.
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