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.
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy / Rodolico, C.; Politano, L.; Portaro, S.; Murru, S.; Boccone, L.; Sera, F.; Passamano, L.; Brizzi, T.; Tupler, R.. - In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. - ISSN 1532-2130. - STAMPA. - 27:(2020), pp. 25-29.
Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy
Sera, F.;
2020
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.I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.