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  • A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

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Original article
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

Authors

  • Taraneh Esmailpour Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA Department of Pathology, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Hamidreza Riazifar Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Linan Liu Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Sandra Donkervoort Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institutes of Health, National Institute of Neurological Disorders and Stroke, Neurogenetics Branch, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Vincent H Huang Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Shreshtha Madaan Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Bassem M Shoucri Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Anke Busch Department of Microbiology and Molecular Genetics, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Jie Wu UCI Genomic High-Throughput Facility, Department of Biological Chemistry, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Alexander Towbin Division of Radiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA PubMed articlesGoogle scholar articles
  • Robert B Chadwick UCI Genomic High-Throughput Facility, Department of Biological Chemistry, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Adolfo Sequeira Functional Genomics Laboratory, Department of Psychiatry & Human Behavior, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Marquis P Vawter Functional Genomics Laboratory, Department of Psychiatry & Human Behavior, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Guoli Sun Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA PubMed articlesGoogle scholar articles
  • Jennifer J Johnston Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Leslie G Biesecker Genetic Disease Research Branch, National Human Genome Research Institute, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Riki Kawaguchi Department of Physiology, Jules Stein Eye Institute, and Howard Hughes Medical Institute, University of California, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Hui Sun Department of Physiology, Jules Stein Eye Institute, and Howard Hughes Medical Institute, University of California, Los Angeles, California, USA PubMed articlesGoogle scholar articles
  • Virginia Kimonis Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  • Taosheng Huang Department of Pediatrics, Division of Human Genetics, University of California Irvine, Irvine, California, USA Department of Pathology, University of California Irvine, Irvine, California, USA Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio, USA Department of Developmental and Cell Biology, University of California, Irvine, California, USA Department of Ophthalmology, University of California, Irvine, California, USA Department of Pathology, MitoMed Molecular Diagnostic Laboratory, University of California Irvine, Irvine, California, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Taosheng Huang, Division of Human Genetics, Cincinnati Children's Hospital Medical Center, 3333 Burnet Avenue, Building R, Room 1027, MLC 7016, Cincinnati, OH 45229, USA; Taosheng.Huang{at}cchmc.org
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Citation

Esmailpour T, Riazifar H, Liu L, et al
A splice donor mutation in NAA10 results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome
Journal of Medical Genetics 2014;51:185-196.

Publication history

  • Received April 11, 2013
  • Revised November 4, 2013
  • Accepted November 13, 2013
  • First published January 15, 2014.
Online issue publication 
April 27, 2016

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