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

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

Patients Our patient Decipher 305834 Decipher 248386 Decipher 251363 Decipher 260771 ISCA ISCA ISCA
nssv578831 nssv581021 nssv582319
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
  1. Abbreviations: ID intellectual disability; DD developmental delay; GDD Global developmental delay; MCA multiple congenital anomalies