Key result
In FSHD patients with in cis D4Z4 repeat array duplications, specific combinations of proximal and distal repeat array sizes determine their pathogenicity.
Why the study?
The relationship of in cis D4Z4 repeat array duplications to FSHD is not well understood, with inconsistent evidence regarding the necessity of an SMCHD1 mutation for disease development.
Population
FSHD patients with in cis duplication alleles
Comparison
Patients with vs without pathogenic SMCHD1 variant
Design
Observational genetic study
Authors
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In cis D4Z4 duplications may explain select FSHD2 cases; leaves open expanded genetic testing before clinical adoption.
Observational
Specific combinations of proximal and distal D4Z4 repeat array sizes determine the pathogenicity of in cis duplication alleles in FSHD, which can aid diagnostic laboratories in accurate interpretation.
Lemmers et al. (2023) conducted an observational in Facioscapulohumeral dystrophy (FSHD). Pathogenic SMCHD1 variant vs. Without pathogenic SMCHD1 variant was evaluated on DUX4 expression and composition of the D4Z4 repeat array. In FSHD patients with in cis D4Z4 repeat array duplications, specific combinations of proximal and distal repeat array sizes determine their pathogenicity.
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