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

Eur J Med Genet. 2009 Sep-Oct;52(5):315-20. doi: 10.1016/j.ejmg.2009.05.003. Epub 2009 May 19.

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • CDX2 Transcription Factor
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 13*
  • DNA / genetics
  • DNA / 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

Substances

  • CDX2 Transcription Factor
  • CDX2 protein, human
  • DNA Primers
  • Fibroblast Growth Factor 9
  • Genetic Markers
  • Homeodomain Proteins
  • DNA
  • Glutathione Synthase