Developmental disability: duplication of zinc finger transcription factors 673 and 674.
The past decade has witnessed a tremendous increase in our ability to identify precise genetic etiologies of developmental delay and intellectual disability. Mutations in various transcription factors were found in patients with intellectual disability. Specifically, the importance of a subgroup of transcription factors containing zinc finger motifs have been increasingly recognized in developmental delay and intellectual disability. We present a patient with intellectual disability in whom the duplication of two genes, ZNF673 and ZNF674, was identified through array-based comparative genomic hybridization. Our report reinforces the role of zinc finger transcription factors in cognitive development. Furthermore, it illustrates that not only deletions, but duplications, can cause developmental delay and intellectual disability.
Ramaswamy
Vijay
V
Division of Pediatric Neurology, University of Alberta, Edmonton, Alberta, Canada.
Castillo
Mauricio
M
Bolduc
Francois V
FV
D000293:Adolescent; D002658:Developmental Disabilities / Q000235:genetics* / Q000473:pathology; D005260:Female; D018628:Gene Dosage / Q000235:genetics; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods; D014157:Transcription Factors / Q000235:genetics*; D016335:Zinc Fingers / Q000235:genetics*
D014157:Transcription Factors