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POMGnT1 gene alterations in a family with neurological abnormalities

Authors

  • Virginie S. Vervoort PhD,

    1. J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood
    Current affiliation:
    1. Developmental Neurobiology Department, The Burnham Institute, La Jolla, CA
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  • Kenton R. Holden MD,

    1. J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood
    2. Department of Neurology, Medical University of South Carolina, Charleston, SC
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  • Kennedy C. Ukadike BS,

    1. J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood
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  • Julianne S. Collins PhD,

    1. J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood
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  • Robert A. Saul MD,

    1. J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood
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  • Anand K. Srivastava PhD

    Corresponding author
    1. J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood
    • J. C. Self Research Institute of Human Genetics, Greenwood Genetic Center, One Gregor Mendel Circle, Greenwood, SC 29646
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Abstract

Muscle-eye-brain disease (MEB), is caused by mutations in the POMGnT1 gene. We describe a white family with two siblings affected with congenital hypotonia early-onset glaucoma, and psychomotor delays. Brain magnetic resonance images (MRIs) showed hydrocephalus, bilateral frontal polymicrogyria, abnormal cerebellum, and characteristic flattened dystrophic pons. We identified novel POMGnT1 gene alterations in this family. Both affected siblings were found to be compound hetrozygotes and carried two missense changes inherited from their mother and one missense change (p.R442C) inherited from their father. Our findings further define the phenotypic spectrum of MEB and its occurrence in the US population. Ann Neurol 2004;56:143–148

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