Table 3.

Five studies included in the analysis

Study	Methods	# cases reported	Gene	Variant/type/allele	Position Gen/protein	inheritance	Sanger confirmation	Functional studies
Beck et al. [10]	Whole exome sequencing (WES)	5 cases (4 affected/one healthy)	CTBP1	c.991CT, p.Arg342Trp Missense Heterozygous	Exon 8/PLDLS binding cleft domain	De novo = 3 Somatic mosaicism = 2	Yes	No (functional studies of these same cases were reported in study #3)
Sommerville et al. [11]	WES mitochondrial genome sequencing	1	CTBP1	c.991CT, p.Arg342Trp Missense Heterozygous	Exon 8/PLDLS binding cleft domain	De novo	Yes	Decreased respiratory chain activities of complexes I and IV
Beck et al. [12]	WES	7	CTBP1	c.991CT, p.Arg342Trp Missense Heterozygous	Exon 8/PLDLS binding cleft domain	De novo	Not mentioned in this report	-Proteomic analysis: reduced interaction of chromatin-modifying factors with the CtBP1 mutant -Genome-wide transcriptome analysis in human glioblastoma cell lines expressing the CtBP1 mutation: Showed changes in the expression profiles of genes that control multiple cellular processes -Patient-derived dermal fibroblasts were more sensitive to apoptosis during glucose deprivation
Bhatia et al. [13]	WES	1	CTBP1	c.991CT, p.Arg342Trp Missense Heterozygous	Exon 8/PLDLS binding cleft	De novo	Yes	No
Khamirani et al. [14]	WES	1	CTBP1	c.1315_1316delCA, p.Gln439ValfsTer84 2-pb deletion Heterozygous	Not analyzed	Consanguineous parents. A proband with an affected brother with a similar clinical condition (not studied)	Yes	No