DeSanto-Shinawi syndrome

Definition:

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.

References:

[1]. Cori DeSanto, et al. WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. J Med Genet. 2015 Nov;52(11):754-61. [Content Brief]

[2]. Nana Okamoto, et al. Deletion at chromosome 10p11.23-p12.1 defines characteristic phenotypes with marked midface retrusion. J Hum Genet. 2012 Mar;57(3):191-6. [Content Brief]

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