Key result
The penetrance of FSHD1 in at-risk relatives carrying large pathological D4Z4 alleles (6-10 repeat units) was 57%, with lower penetrance observed in women and those with 9-10 repeat units.
Cross-Sectional (n=184)
Single-blind
Yes
Penetrance of FSHD1 is lower for the largest pathological alleles (9-10 RUs) and is significantly lower in women than men, which is critical for accurate genetic counseling.
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May inform FSHD1 genetic counseling; leaves open prospective validation of sex- and allele-specific penetrance.
Salort-Campana et al. (2015) conducted a cross-sectional in Facioscapulohumeral muscular dystrophy type 1 (FSHD1) (n=184). D4Z4 contraction of 6-10 repeat units vs. Non-carriers was evaluated on Penetrance (ratio of clinically affected carriers to total carriers). The penetrance of FSHD1 in at-risk relatives carrying large pathological D4Z4 alleles (6-10 repeat units) was 57%, with lower penetrance observed in women and those with 9-10 repeat units.
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