Neural tube defect family with recessive trait linked to chromosome 9q21.12-21.31

Childs Nerv Syst. 2015 Aug;31(8):1367-70. doi: 10.1007/s00381-015-2753-z. Epub 2015 May 26.


Purpose: 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.

MeSH terms

  • Child
  • Chromosomes, Human, Pair 9 / genetics*
  • Family Health*
  • Female
  • Gene Expression Profiling
  • Genes, Recessive / genetics*
  • Genetic Predisposition to Disease / genetics*
  • Humans
  • Hydrocephalus / etiology
  • Infant
  • Neural Tube Defects / complications
  • Neural Tube Defects / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Polymorphism, Single Nucleotide
  • Tomography, X-Ray Computed
  • Turkey