| Novel NDE1 homozygous mutation resulting in microhydranencephaly and not microlyssencephaly. | |
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MedLine Citation:
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PMID: 22526350 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Lissencephaly is characterized by deficient cortical lamination. Recently homozygous NDE1 mutations were reported in three kindred afflicted with extreme microcephaly with lissencephaly or microlissencephaly. Another severe developmental defect that involves the brain is microhydranencephaly which manifests with microcephaly, motor and mental retardation and brain malformations that include gross dilation of the ventricles with complete absence of the cerebral hemispheres or severe delay in their development. In the three related patients with microhydranencephaly that we had reported previously, we identified a homozygous deletion that encompasses NDE1 exon 2 containing the initiation codon. The mutation is predicted to result in a null allele. Herein we compare the clinical phenotypes of our research patients to those reported as microlissencephaly. The clinical findings in our patients having the fourth NDE1 mutation reported so far widen the spectrum of brain malformations resulting from mutations in NDE1. |
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Authors:
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Ayse Guven; Aysegul Gunduz; Tarik M Bozoglu; Cengiz Yalcinkaya; Aslıhan Tolun |
Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't Date: 2012-04-15 |
Journal Detail:
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Title: Neurogenetics Volume: 13 ISSN: 1364-6753 ISO Abbreviation: Neurogenetics Publication Date: 2012 Aug |
Date Detail:
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Created Date: 2012-08-13 Completed Date: 2013-01-11 Revised Date: 2013-02-15 |
Medline Journal Info:
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Nlm Unique ID: 9709714 Medline TA: Neurogenetics Country: United States |
Other Details:
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Languages: eng Pagination: 189-94 Citation Subset: IM |
Affiliation:
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Department of Molecular Biology and Genetics, Boğaziçi University, KP 301, Bebek, 34342 Istanbul, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Alleles Brain / pathology Exons Facies Female Gene Deletion Homozygote Humans Hydranencephaly / genetics* Magnetic Resonance Imaging / methods Microcephaly / genetics* Microtubule-Associated Proteins / genetics* Models, Genetic Mutation* Phenotype Sequence Analysis, DNA |
| Chemical | |
Reg. No./Substance:
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0/Microtubule-Associated Proteins; 0/Nde1 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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