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

Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.
Eur J Paediatr Neurol. 2020 May 22;:
Authors: Rodolico C, Politano L, Portaro S, Murru S, Boccone L, Sera F, Passamano L, Brizzi T, Tupler R
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.
PMID: 32553920 [PubMed - as supplied by publisher]

Source: European Journal of Paediatric Neurology - May 21, 2020 Category: Neurology Authors: Rodolico C, Politano L, Portaro S, Murru S, Boccone L, Sera F, Passamano L, Brizzi T, Tupler R Tags: Eur J Paediatr Neurol Source Type: research