Deletion of the Williams Beuren syndrome critical region unmasks facioscapulohumeral muscular dystrophy.
Eur J Paediatr Neurol
; 27: 25-29, 2020 Jul.
Article
in En
| MEDLINE
| ID: mdl-32553920
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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Chromosomes, Human, Pair 4
/
Williams Syndrome
/
Muscular Dystrophy, Facioscapulohumeral
Type of study:
Prognostic_studies
Limits:
Adolescent
/
Child
/
Child, preschool
/
Humans
/
Infant
/
Male
Country/Region as subject:
Europa
Language:
En
Journal:
Eur J Paediatr Neurol
Journal subject:
NEUROLOGIA
/
PEDIATRIA
Year:
2020
Document type:
Article
Affiliation country:
Italia