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  Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients

Schell-Apacik, C. C., Wagner, K., Bihler, M., Ertl-Wagner, B., Heinrich, U., Klopocki, E., et al. (2008). Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am J Med Genet A, 146A(19), 2501-11. doi:10.1002/ajmg.a.32476.

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Item Permalink: http://hdl.handle.net/21.11116/0000-0002-E013-B Version Permalink: http://hdl.handle.net/21.11116/0000-0002-E014-A
Genre: Journal Article

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 Creators:
Schell-Apacik, C. C.1, Author
Wagner, K.1, Author
Bihler, M.1, Author
Ertl-Wagner, B.1, Author
Heinrich, U.1, Author
Klopocki, E.1, Author
Kalscheuer, V. M.1, Author
Muenke, M.1, Author
von Voss, H.1, Author
Affiliations:
1Max Planck Society, ou_persistent13              

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Free keywords: Abnormalities, Multiple/diagnosis/*genetics Adult *Agenesis of Corpus Callosum Child Child, Preschool Corpus Callosum/*diagnostic imaging/pathology Female Gene Rearrangement/genetics Humans Infant Intellectual Disability/diagnosis/genetics Male Nervous System Malformations/diagnosis/*genetics Radiography
 Abstract: 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.

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 Dates: 2008
 Publication Status: Published in print
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 Rev. Method: -
 Identifiers: Other: 18792984
DOI: 10.1002/ajmg.a.32476
ISSN: 1552-4833 (Electronic) 1552-4825 (Linking)
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Title: Am J Med Genet A
  Alternative Title : American journal of medical genetics. Part A
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 146A (19) Sequence Number: - Start / End Page: 2501 - 11 Identifier: -