A de novo triplication on 2q22.3 including the entire ZEB2 gene associated with global developmental delay, multiple congenital anomalies and behavioral abnormalities

Table 2 Genomic and clinical information of patients with duplication or triplication involving ZEB2 gene

Patients	Our patient	Decipher 305834	Decipher 248386	Decipher 251363	Decipher 260771	ISCA	ISCA	ISCA
						nssv578831	nssv581021	nssv582319
						nssv578831	nssv582654
Genomic location (hg19)	chr2:143886436	chr2:143871597	chr2:144872516	chr2:143289932	chr2:139199740	chr2:145219415	chr2:144657717	chr2:144657717
	−146831592	−146250048	−151071321	−151513175	−151305504	−145422833	−145425705	−159178136
Size	2.9 Mb	2.4 Mb	6.2 Mb	8.2 Mb	12.1 Mb	203Kb	768Kb	14.5 Mb
	triplication	duplication	duplication	duplication	duplication	duplication	duplication	duplication
Inheritance	De novo	unknown	De novo	De novo	De novo	De novo	unknown	unknown
Phenotype	ID, DD, MCA, Behavior problems	ID	Hearing impairment	ID, distinctive facial features, cryptorchidism, macrodontia	ID	seizure	DD, MCA and autism	GDD
Genes involved	ARHGAP15, GTDC1, ZEB2, TEX41	ARHGAP15, GTDC1, ZEB2, TEX41	TEX41, ACVR2A, ORC4, MBD5, EPC2, KIF5C, MMADHC, etc	ARHGAP15, GTDC1, ZEB2, TEX41, ACVR2A, ORC4, MBD5, EPC2, KIF5C, MMADHC, etc,	LRP1B, KYNU, ARHGAP15, GTDC1, ZEB2, TEX41, ACVR2A, ORC4, MBD5, EPC2, KIF5C, MMADHC, etc	Part of ZEB2	GTDC1, ZEB2	GTDC1, ZEB2, TEX41, ACVR2A, ORC4, MBD5, EPC2, KIF5C, MMADHC, NEB, CACNB4, NR4A2, GPD2, ACVR1, etc

Abbreviations: ID intellectual disability; DD developmental delay; GDD Global developmental delay; MCA multiple congenital anomalies

ISSN: 1755-8166