Identification of novel candidate disease genes from de novo exonic copy number variants

Table 2 Clinical information on patients with STK3 variants

Case number	Pt1	Pt2	Pt3	Pt4
Sex	Female	Male	Female	Male
Variant	chr8: 99,591,666-99,678,567 87 kb, exons 7-8 del	chr8: 99,883,084-100,026,306^a 143 kb, exons 1-3 del	chr8: 99,638,463-99,719,599 81 kb, exons 5-6 del	chr8:99,524,409-99,546,574^a 22 kb, exon 10 del
Confirmation method	FISH	FISH, PCR + Sanger	High-density CGH array	PCR + Sanger
Affected genes	STK3	STK3, OSR2	STK3	STK3
Inheritance	De novo	De novo	Unknown	Unknown
Parental studies	FISH	FISH	N/A	N/A
Developmental delay/intellectual disability	N/A	+	N/A	+
Multiple congenital anomalies	+	N/A	Skull, face, and neck anomalies	N/A
Other	Dysmorphic features	Radioulnar synostosis, hypospadias	N/A	Failure to thrive, hypotonia

^aCNV coordinates obtained using PCR and Sanger sequencing of breakpoint junction
N/A not available

ISSN: 1756-994X