Table 1.

Familial SMARCB1 mutations and family members affected by schwannomatosis or rhabdoid tumor (RT) as previously published

Number of SMARCB1 mutation carriers and clinical details	SMARCB1 germline mutation	Reference
Four generations of the family were affected. Six family members were mutation carriers; three of them had schwannomatosis, two died from RT as infants and one mutation carrier was clinically unaffected. However, MRI investigations were not performed	Direct duplication of 2,631‐bp including parts of intron 5 and 6, as well as complete exon 6 causing a frameshift and protein truncation (p.Leu266fs)	Swensen et al. (2009)
The female mutation carrier was affected by RT. Her father and paternal grandmother were also mutation carriers and had schwannomatosis but not RT	c.472C>T, exon 4	Eaton et al. (2011)
The mother carried the mutation and had schwannomatosis. One of her schwannomas transformed to an epithelioid malignant peripheral nerve sheath tumor. All three of her children harbored the mutation, two of whom had RT, whereas one was asymptomatic	Frameshift mutation c.245_246insAT, exon 3	Carter et al. (2012)
Two sisters exhibited RT, while their father and paternal grandmother had schwannomatosis	Not investigated	Sredni & Tomita (2015)