Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.

ABSTRACT: Among 1339 unrelated cases accrued by the Italian National Registry for facioscapulohumeral muscular dystrophy (FSHD), we found three unrelated cases who presented signs of Williams-Beuren Syndrome (WBS) in early childhood and later developed FSHD. All three cases carry the molecular defects associated with the two disorders. The rarity of WBS and FSHD, 1 in 7500 and 1 in 20,000 respectively, makes a random association of the two diseases unlikely. These cases open novel and unexpected interpretation of genetic findings. The nonrandom association of both FSHD and WBS points at a gene co-expression network providing hints for the identification of modules and functionally enriched pathways in the two conditions.

SUBMITTER: Rodolico C 

PROVIDER: S-EPMC7427329 | biostudies-literature | 2020 Jul

REPOSITORIES: biostudies-literature