Table 2 Comparison of mutant mice with SMARCB1-related CSS and ID-CPH

From: Mutations in SMARCB1 and in other Coffin–Siris syndrome genes lead to various brain midline defects

 

CSS patients with proven SMARCB1 mutations

ID-CPH patients with a distinct SMARCB1 mutation

Mutant mice (Smarcb1+/inv NesCre+/−)

Microcephaly (in patients: reduced occipitofrontal circumference)

(15/15) 100%

(0/4) 0%

100%

Agenesis or hypoplasia of the corpus callosum

(14/15) 93%

(4/4) 100%

94%

Cerebellar hypoplasia

(2/15) 13%

(2/4) 50%

100%

Cerebellar midline abnormality (in patients: Dandy–Walker malformation or variant, vermis hypoplasia)

(4/15) 27%

Reduced vermis size (2/4) 50%

95%

Choroid plexus hyperplasia

Not reported/found

(4/4) 100%

100%

Growth impairment

(16/16) 100%

Intrauterine growth retardation (1/4) 25%

100%

  1. Data on CSS individuals are taken from Kosho et al. (2014)17, Gossai et al. (2015)51, and individuals 1 and 8–11 described in this article; data on ID-CPH individuals are taken from Diets et al. (2018)11.
  2. CSS Coffin–Siris syndrome, ID-CPH intellectual disability-choroid plexus hyperplasia
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