Radio-Tartaglia syndrome

Definition:

Radio-Tartaglia syndrome (RATARS) is a syndromic neurodevelopmental disorder characterized by intellectual disability, hypotonia, behavior abnormalities, multiple congenital anomalies, and facial dysmorphisms. Truncating SPEN mutations have been reported in affected individuals. SPEN encodes a large protein that functions as a transcriptional repressor through interactions with other repressors and chromatin-remodeling complexes.

References:

[1]. Francesca Clementina Radio, et al. SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females. Am J Hum Genet. 2021 Mar 4;108(3):502-516. [Content Brief]

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