title: 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.
abstract: 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.affiliation: Department of Medical Genetics, Istanbul University, Istanbul, Turkey.
authors.forename: Abdullah
authors.initials: A
authors.lastname: Uzumcu
authors.forename: Birsen
authors.initials: B
authors.lastname: Karaman
authors.forename: Guven
authors.initials: G
authors.lastname: Toksoy
authors.forename: Z Oya
authors.initials: ZO
authors.lastname: Uyguner
authors.forename: Sukru
authors.initials: S
authors.lastname: Candan
authors.forename: Hacer
authors.initials: H
authors.lastname: Eris
authors.forename: Burak
authors.initials: B
authors.lastname: Tatli
authors.forename: Bilge
authors.initials: B
authors.lastname: Geckinli
authors.forename: Adnan
authors.initials: A
authors.lastname: Yuksel
authors.forename: Hulya
authors.initials: H
authors.lastname: Kayserili
authors.forename: Seher
authors.initials: S
authors.lastname: Basaran
mesh_terms: D000483:Alleles; D000071616:CDX2 Transcription Factor; D002872:Chromosome Deletion; D002882:Chromosomes, Human, Pair 13; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D017931:DNA Primers / Q000737:chemistry; D030541:Databases, Genetic; D005158:Facial Paralysis / Q000235:genetics*; D051525:Fibroblast Growth Factor 9 / Q000235:genetics; D005819:Genetic Markers; D005820:Genetic Testing; D005838:Genotype; D005981:Glutathione Synthase / Q000235:genetics; D006239:Haplotypes; D018398:Homeodomain Proteins / Q000235:genetics; D006720:Homozygote; D006801:Humans; D018895:Microsatellite Repeats; D020331:Mobius Syndrome / Q000235:genetics*; D021141:Nucleic Acid Amplification Techniques; D020161:Physical Chromosome Mapping; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
chemical_list: D000071616:CDX2 Transcription Factor; C491270:CDX2 protein, human; D017931:DNA Primers; D051525:Fibroblast Growth Factor 9; D005819:Genetic Markers; D018398:Homeodomain Proteins; D004247:DNA; D005981:Glutathione Synthase