This Article Full Text (PDF) References Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in Web of Science Similar articles in PubMed Alert me to new issues of the journal Add to Saved Citations Download to citation manager Request Permissions Request Reprints Add to My Marked Citations Citing Articles Citing Articles via Google Scholar Citing Articles via Scopus Google Scholar Articles by Amador, C. Articles by Holden, K. R. Search for Related Content PubMed PubMed Citation Articles by Amador, C. Articles by Holden, K. R. Social Bookmarking                         What's this?

Expanding the Neurologic Phenotype of Oculodentodigital Dysplasia in a 4-Generation Hispanic Family

Department of Neurology, Hospital Escuela, Tegucigalpa, Honduras

Anne M. Mathews, BS

College of Medicine, Medical University of South Carolina, Charleston, South Carolina

Maria del Carmen Montoya, MD

Department of Genetics, The National Medical School of Honduras, Tegucigalpa, Honduras

Mary E. Laughridge, BS

Department of Neurosciences (Neurology) and Pediatrics, Medical University of South Carolina, Charleston, South Carolina

David B. Everman, MD

Department of Neurosciences (Neurology) and Pediatrics, Medical University of South Carolina, Charleston, South Carolina

Kenton R. Holden, MD

J.C. Self Research Institute of Human Genetics, Greenwood Genetic Center, Greenwood, South Carolina, Department of Neurosciences (Neurology) and Pediatrics, Medical University of South Carolina, Charleston, South Carolina, kholden{at}ggc.org

We report a 4-generation Hispanic family with oculodentodigital dysplasia whose members were found to have typical phenotypic characteristics of this disorder, as well as a variable expression of neurologic manifestations in multiple generations ranging from a mild spastic gait to moderate to severe spastic tetraparesis/quadriplegia with epilepsy and an abnormal brain and spinal cord magnetic resonance imaging result. Gene testing documented a previously reported missense mutation in GJA1 (connexin 43) exon 2 (c.389T>C;p.I130T). Our evaluation not only expands the phenotypes associated with GJA1 gene mutations but also demonstrates that a great degree of variability in neurological defects can exist within a single family without evidence of genetic anticipation. A genotype-phenotype correlation between the p.I130T mutation and neurologic dysfunction appears more likely with the addition of this report's neurologic and GJA1 gene mutation findings. These findings expand the neurologic phenotype and prognosis and underscore the importance of counseling families with oculodentodigital dysplasia about the possibility of neurologic involvement.

Key Words: oculodentodigital dysplasia • phenotype • paraparesis • quadriparesis • mutation • connexin 43 • GJA1

Journal of Child Neurology, Vol. 23, No. 8, 901-905 (2008)
DOI: 10.1177/0883073808317730


CiteULike    Complore    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter    What's this?