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Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

Authors

  • Thierry Vilboux Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Division of Medical Genomics, Inova Translational Medicine Institute, Falls Church, Virginia, USA PubMed articlesGoogle scholar articles
  • May Christine V Malicdan Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Yun Min Chang Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Jennifer Guo Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Patricia M Zerfas Diagnostic and Research Services Branch, Office of Research Services, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Joshi Stephen Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Andrew R Cullinane Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Department of Anatomy, College of Medicine, Howard University, Washington DC, USA PubMed articlesGoogle scholar articles
  • Joy Bryant Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Roxanne Fischer Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Brian P Brooks Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Wadih M Zein Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Edythe A Wiggs National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Christopher K Zalewski Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Andrea Poretti Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University, Baltimore, Maryland, USA PubMed articlesGoogle scholar articles
  • Melanie M Bryan Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Meghana Vemulapalli NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • James C Mullikin NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Martha Kirby Flow Cytometry Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Stacie M Anderson Flow Cytometry Core, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • NIH Intramural Sequencing Center (NISC), National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA Google scholar articles
  • Marjan Huizing Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Camilo Toro NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • William A Gahl Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA NIH Undiagnosed Diseases Program, Common Fund, National Institutes of Health, Bethesda, Maryland, USA National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  • Meral Gunay-Aygun Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA PubMed articlesGoogle scholar articles
  1. Correspondence to Dr May Christine V Malicdan, National Human Genome Research Institute, National Institutes of Health, 10 Center Dr, Bldg 10, Rm 10C103C Bethesda, MD 20892-1851, USA; malicdanm{at}mail.nih.gov
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Citation

Vilboux T, Malicdan MCV, Chang YM, et al
Cystic cerebellar dysplasia and biallelic LAMA1 mutations: a lamininopathy associated with tics, obsessive compulsive traits and myopia due to cell adhesion and migration defects

Publication history

  • Received July 25, 2015
  • Revised November 13, 2015
  • Accepted December 6, 2015
  • First published January 13, 2016.
Online issue publication 
April 22, 2016

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