DeSanto-Shinawi syndrome is characterised by facial dysmorphism, eye abnormalities, developmental delay, behavioral abnormalities, and hypotonia. Recent case reports of patients have implicated overlapping deletions encompassing 10p11.23 in the specific features of this disease. And it has been suggested that WAC loss-of-function mutations are responsible for most of those phenotypic features.
Category
Chromosomal abnormality
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
LD44 Deletions of the autosomes
H02103 DeSanto-Shinawi syndrome
DeSanto C, D'Aco K, Araujo GC, Shannon N, Vernon H, Rahrig A, Monaghan KG, Niu Z, Vitazka P, Dodd J, Tang S, Manwaring L, Martir-Negron A, Schnur RE, Juusola J, Schroeder A, Pan V, Helbig KL, Friedman B, Shinawi M
Title
WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome.
