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

Quick links

Search