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. 2019 Jul 4;10:2966. doi: 10.1038/s41467-019-10849-y

Table 1.

Brain MRI findings in CSS individuals

No. Mutation CC AC HC Septum pellucidum CP Cerebellum
1 SMARCB1 c.1121G>A p.(Arg374Gln) Short stubby Not visible Not visible Present Normal Normal
8 SMARCB1 c.1121G>A p.(Arg374Gln) Short stubby Not visible Not visible Present Normal Normal
9 SMARCB1 c.1091_1093delAGA p.(Lys364del) Short Normal Normal Present Normal Large posterior fossa, hypoplastic vermis, cerebellar hypoplasia
10 SMARCB1 c.1091_1093delAGA p.(Lys364del) Short thin Small Small Normal Normal Enlarged fourth ventricle, mild vermis hypoplasia
11 SMARCB1 c.1121G>A p.(Arg374Gln) Short thin Normal Normal Normal Normal Normal
2 ARID1B c.5961_5964delGAGA p.(Arg1988Serfs*32) Normal Normal Normal Present Normal Normal
3 ARID1B c.3604_3610dupTCCATGG p.(Ala1204Valfs*8) Short stubby Small Small Present Normal Normal
4 ARID1B c.5346dupT p.(Lys1783*) Absent Absent Absent Absent Voluminous Normal
5 ARID1B c.2191_2192dupAT p.(Pro732Serfs*14) Normal Normal Normal Present Normal Normal
6 ARID1B c.5910_5928del p.(Pro1973Argfs*29) Absent Small Small Absent Normal Normal
7 SMARCE1 c.218A>C p.(Tyr73Ser) Short thin Small Small Hypoplastic Normal Large posterior fossa, vermis hypoplasia, cerebellar dysplasia

Abnormalities are highlighted in bold

No. patient number, CC corpus callosum, AC anterior commissure, HC hippocampal commissure, CP choroid plexus, CSS Coffin–Siris syndrome, MRI magnetic resonance imaging