title: Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31.
abstract: OBJECTIVE
  Meningomyelocele is one of the most common and socioeconomically, psychologically, and physically debilitating neurodevelopmental diseases. A few chromosomal locus and genes have been identified as responsible for the disease; however, clear evidence still needs to be produced. This study aimed to show evidence of a strong genetic linkage in a novel chromosomal locus in a family with this neural tube defect.
  
  
  METHODS
  We identified a neural tube defect family in eastern Turkey, where two of six offspring had operations due to thoracolumbar meningomyelocele. The parents were of a consanguineous marriage. We collected venous blood from six offspring of the family. Whole genome linkage analysis was performed in all offspring.
  
  
  RESULTS
  A theoretical maximum logarithm of an odds score of 3.16 was identified on chromosome 9q21.12-21.31. This result shows a strong genetic linkage to this locus.
  
  
  CONCLUSIONS
  Our results identified a novel chromosomal locus related to meningomyelocele and provide a base for further investigations toward the discovery of a new causative gene.
authors.affiliation: Department of Neurosurgery, Marmara University School of Medicine, Istanbul, Turkey.
authors.forename: Yasar
authors.initials: Y
authors.lastname: Bayri
authors.forename: Burcak
authors.initials: B
authors.lastname: Soylemez
authors.forename: Askin
authors.initials: A
authors.lastname: Seker
authors.forename: Sirin
authors.initials: S
authors.lastname: Yuksel
authors.forename: Bahattin
authors.initials: B
authors.lastname: Tanrikulu
authors.forename: Olcay
authors.initials: O
authors.lastname: Unver
authors.forename: Cagrı
authors.initials: C
authors.lastname: Canbolat
authors.forename: Mustafa
authors.initials: M
authors.lastname: Sakar
authors.forename: Ozen
authors.initials: O
authors.lastname: Kardag
authors.forename: Cengiz
authors.initials: C
authors.lastname: Yakicier
authors.forename: Adnan
authors.initials: A
authors.lastname: Dagcinar
authors.forename: Ibrahim
authors.initials: I
authors.lastname: Ziyal
authors.forename: Fatih
authors.initials: F
authors.lastname: Bayrakli
mesh_terms: D002648:Child; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D005192:Family Health; D005260:Female; D020869:Gene Expression Profiling; D005808:Genes, Recessive / Q000235:genetics*; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006801:Humans; D006849:Hydrocephalus / Q000209:etiology; D007223:Infant; D009436:Neural Tube Defects / Q000150:complications / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D020641:Polymorphism, Single Nucleotide; D014057:Tomography, X-Ray Computed; D014421:Turkey