Document Detail


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.
MedLine Citation:
PMID:  19460469     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
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:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2009-05-19
Journal Detail:
Title:  European journal of medical genetics     Volume:  52     ISSN:  1878-0849     ISO Abbreviation:  Eur J Med Genet     Publication Date:    2009 Sep-Oct
Date Detail:
Created Date:  2009-08-25     Completed Date:  2009-11-13     Revised Date:  2009-12-29    
Medline Journal Info:
Nlm Unique ID:  101247089     Medline TA:  Eur J Med Genet     Country:  Netherlands    
Other Details:
Languages:  eng     Pagination:  315-20     Citation Subset:  IM    
Affiliation:
Department of Medical Genetics, Istanbul University, Istanbul, Turkey.
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MeSH Terms
Descriptor/Qualifier:
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:
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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