Literature DB >> 20691945

Developmental disability: duplication of zinc finger transcription factors 673 and 674.

Vijay Ramaswamy1, Mauricio Castillo, Francois V Bolduc.   

Abstract

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. Copyright 2010 Elsevier Inc. All rights reserved.

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Year:  2010        PMID: 20691945     DOI: 10.1016/j.pediatrneurol.2010.04.016

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  3 in total

1.  XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.

Authors:  Amélie Piton; Claire Redin; Jean-Louis Mandel
Journal:  Am J Hum Genet       Date:  2013-07-18       Impact factor: 11.025

2.  Sex chromosome aneuploidies and copy-number variants: a further explanation for neurodevelopmental prognosis variability?

Authors:  Jessica Le Gall; Mathilde Nizon; Olivier Pichon; Joris Andrieux; Séverine Audebert-Bellanger; Sabine Baron; Claire Beneteau; Frédéric Bilan; Odile Boute; Tiffany Busa; Valérie Cormier-Daire; Claude Ferec; Mélanie Fradin; Brigitte Gilbert-Dussardier; Sylvie Jaillard; Aia Jønch; Dominique Martin-Coignard; Sandra Mercier; Sébastien Moutton; Caroline Rooryck; Elise Schaefer; Marie Vincent; Damien Sanlaville; Cédric Le Caignec; Sébastien Jacquemont; Albert David; Bertrand Isidor
Journal:  Eur J Hum Genet       Date:  2017-06-14       Impact factor: 4.246

3.  A large scale multivariate parallel ICA method reveals novel imaging-genetic relationships for Alzheimer's disease in the ADNI cohort.

Authors:  Shashwath A Meda; Balaji Narayanan; Jingyu Liu; Nora I Perrone-Bizzozero; Michael C Stevens; Vince D Calhoun; David C Glahn; Li Shen; Shannon L Risacher; Andrew J Saykin; Godfrey D Pearlson
Journal:  Neuroimage       Date:  2012-01-08       Impact factor: 6.556

  3 in total

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