Document Detail


Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients.
MedLine Citation:
PMID:  18792984     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Agenesis of the corpus callosum (ACC) is among the most frequent human brain malformations with an incidence of 0.5-70 in 10,000. It is a heterogeneous condition, for which several different genetic causes are known, for example, ACC as part of monogenic syndromes or complex chromosomal rearrangements. We systematically evaluated the data of 172 patients with documented corpus callosum abnormalities in the records, and 23 patients with chromosomal rearrangements known to be associated with corpus callosum changes. All available neuroimaging data, including CT and MRI, were re-evaluated following a standardized protocol. Whenever feasible chromosome and subtelomere analyses as well as molecular genetic testing were performed in patients with disorders of the corpus callosum in order to identify a genetic diagnosis. Our results showed that 41 patients with complete absence (agenesis of the corpus callosum-ACC) or partial absence (dysgenesis of the corpus callosum-DCC) were identified. Out of these 28 had ACC, 13 had DCC. In 11 of the 28 patients with ACC, the following diagnoses could be established: Mowat-Wilson syndrome (n = 2), Walker-Warburg syndrome (n = 1), oro-facial-digital syndrome type 1 (n = 1), and chromosomal rearrangements (n = 7), including a patient with an apparently balanced reciprocal translocation, which led to the disruption and a predicted loss of function in the FOXG1B gene. The cause of the ACC in 17 patients remained unclear. In 2 of the 13 patients with DCC, unbalanced chromosomal rearrangements could be detected (n = 2), while the cause of DCC in 11 patients remained unclear. In our series of cases a variety of genetic causes of disorders of the corpus callosum were identified with cytogenetic anomalies representing the most common underlying etiology.
Authors:
Chayim Can Schell-Apacik; Kristina Wagner; Moritz Bihler; Birgit Ertl-Wagner; Uwe Heinrich; Eva Klopocki; Vera M Kalscheuer; Maximilian Muenke; Hubertus von Voss
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  146A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2008 Oct 
Date Detail:
Created Date:  2008-09-30     Completed Date:  2008-11-13     Revised Date:  2013-06-05    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  2501-11     Citation Subset:  IM    
Copyright Information:
Copyright 2008 Wiley-Liss, Inc.
Affiliation:
Institute of Social Pediatrics and Adolescent Medicine of the University of Munich, München, Germany. schell-apacik@gmx.de
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / diagnosis,  genetics*
Adult
Agenesis of Corpus Callosum*
Child
Child, Preschool
Corpus Callosum / pathology,  radiography*
Female
Gene Rearrangement / genetics
Humans
Infant
Intellectual Disability / diagnosis,  genetics
Male
Nervous System Malformations / diagnosis,  genetics*
Grant Support
ID/Acronym/Agency:
Z99 HG999999/HG/NHGRI NIH HHS
Comments/Corrections

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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