Diagnostic Overlap between Fanconi Anemia and the Cohesinopathies: Roberts Syndrome and Warsaw Breakage Syndrome

Table 1

Individuals studied in this report.

Alias	Patient code	Gene	Mutation(s)	Remarks	ref
RBS-1	VU1199	ESCO2	c.877_878delAG	Homozygous	[20, 23, 24]
RBS-2	VU1366	ESCO2	c.762_763delTT	Homozygous	[20, 23, 24]
RBS-3	VU1400	ESCO2	c.877_878delAG	Homozygous	[20, 23, 24]
RBS-4	VU1174	ESCO2	c.1457_1458delAG	Homozygous	[20, 23, 24]
WABS	VU1202	DDX11	IVS22+2C>T c.2689_2691delAAG	Compound heterozygous	[19]
FA-1	EUFA1333	FANCJ	IVS11–498A>T c.2392C>T	Hematopoietic mosaicism	[25]
FA-2	EUFA1386	FANCB	c.811insT	Hemizygous (X-linked)	[26]
Con-1	VU1200	ESCO2	c.877_878delAG	Mother of VU1199
Con-2	VU1401	ESCO2	c.877_878delAG	Mother of VU1400
Con-3	VU1203	DDX11	IVS22+2C>T	Mother of VU1202	[19]
Con-4, -5, -6	Healthy controls