| Molecular genetic screening of MBS1 locus on chromosome 13 for microdeletions and exclusion of FGF9, GSH1 and CDX2 as causative genes in patients with Moebius syndrome. | |
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MedLine Citation:
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PMID: 19460469 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Moebius syndrome is a rare disorder primarily characterized by congenital facial palsy, frequently accompanied by ocular abduction anomalies, and occasionally associated with orofacial, limb and musculoskeletal malformations. Abnormal development of cranial nerves V through XII underlines the disease pathogenesis. Although some investigations suggested that a causative gene may lie on 13q12.2-q13, there have been no molecular studies targeting possible microdeletions in this region to date. In the present study, we performed microdeletion analyses on 13q12.11-q13 in nine patients, and sequenced three candidate genes in nineteen patients for functional relevance and further resolution of our screening. We ruled out microdeletions on the critical region as a common cause of Moebius syndrome and excluded FGF9, GSH1 and CDX2 genes. |
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Authors:
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Abdullah Uzumcu; Birsen Karaman; Guven Toksoy; Z Oya Uyguner; Sukru Candan; Hacer Eris; Burak Tatli; Bilge Geckinli; Adnan Yuksel; Hulya Kayserili; Seher Basaran |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't Date: 2009-05-19 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Sep-Oct |
Date Detail:
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Created Date: 2009-08-25 Completed Date: 2009-11-13 Revised Date: 2009-12-29 |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 315-20 Citation Subset: IM |
Affiliation:
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Department of Medical Genetics, Istanbul University, Istanbul, Turkey. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Chromosome Deletion* Chromosomes, Human, Pair 13* DNA / genetics, isolation & purification DNA Primers / chemistry Databases, Genetic Facial Paralysis / genetics* Fibroblast Growth Factor 9 / genetics Genetic Markers Genetic Testing* Genotype Glutathione Synthase / genetics Haplotypes Homeodomain Proteins / genetics Homozygote Humans Microsatellite Repeats Mobius Syndrome / genetics* Nucleic Acid Amplification Techniques Physical Chromosome Mapping Polymerase Chain Reaction Sequence Analysis, DNA |
| Chemical | |
Reg. No./Substance:
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0/CDX2 protein, human; 0/DNA Primers; 0/Fibroblast Growth Factor 9; 0/Genetic Markers; 0/Homeodomain Proteins; 9007-49-2/DNA; EC 6.3.2.3/Glutathione Synthase |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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